(used for variant description)
(last modified June 10, 2025)
This file was created to facilitate the description of sequence variants on transcript NM_001010898.2 in the SLC6A17 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering SLC6A17 transcript NM_001010898.2.
(upstream sequence)
. . . . g.5041
gaacagtgcgcgcagcgctccgcccagctccgttctgctcc c.-421
. . . . . . g.5101
gcagagccggcgctgccagggcgcagggagggcggcactcggccccagtcttcgcaatcc c.-361
. . . . . . g.5161
cgcgcgctctctccgccgtgggacctgggtccccgcgccgctcccctgagccccgagcgc c.-301
. . . . . . g.5221
gcggcgggcgggagccaggttgggactggtggtgaggcagggagtgaggagcgagcggag c.-241
. . . . . . g.5281
tcgcgtgcgccggcgcgcagctccgggtcgccccagccccagccgggggcctgtggcccg c.-181
. . . . . . g.5341
ggggaggagctgtgcgtccgcgacccgtcggggatcgcagctgctcggccggagtgcacg c.-121
. . . . | 02 . . g.21360
ggccgagtctgcgcgactacccacgcgtgacag | gtccctgaatgagaaggagctgacagc c.-61
. . . . . . g.21420
agctgaattccatcttctctgtgtgctggggagcagggctacacggcccaggtggcatca c.-1
. . . . . . g.21480
ATGCCGAAGAACAGCAAAGTGACCCAGCGTGAGCACAGCAGTGAGCATGTCACTGAGTCC c.60
M P K N S K V T Q R E H S S E H V T E S p.20
. . . . . . g.21540
GTGGCCGACCTGCTGGCCCTCGAGGAGCCTGTGGACTATAAGCAGAGTGTACTGAATGTG c.120
V A D L L A L E E P V D Y K Q S V L N V p.40
. . . . . . g.21600
GCTGGTGAGGCAGGCGGCAAGCAGAAGGCGGTGGAGGAGGAGCTGGATGCAGAGGACCGG c.180
A G E A G G K Q K A V E E E L D A E D R p.60
. . . . . . g.21660
CCGGCCTGGAACAGTAAGCTGCAGTACATCCTGGCCCAGATTGGCTTCTCTGTGGGCCTC c.240
P A W N S K L Q Y I L A Q I G F S V G L p.80
. . . . | 03 . . g.26564
GGCAACATCTGGAGGTTCCCCTACCTGTGCCAGAAAAATGGAGGAG | GTGCTTACCTGGTG c.300
G N I W R F P Y L C Q K N G G G | A Y L V p.100
. . . . . . g.26624
CCCTACCTGGTGCTGCTGATCATCATCGGGATCCCCCTCTTCTTCCTGGAGCTGGCTGTG c.360
P Y L V L L I I I G I P L F F L E L A V p.120
. . . . . . g.26684
GGTCAGAGGATCCGCCGCGGCAGCATCGGTGTGTGGCACTATATATGTCCCCGCCTGGGG c.420
G Q R I R R G S I G V W H Y I C P R L G p.140
. . | 04 . . . . g.28499
GGCATCGGCTTCTCCAGCTGCATA | GTCTGTCTCTTTGTGGGGCTGTATTATAATGTGATC c.480
G I G F S S C I | V C L F V G L Y Y N V I p.160
. . . . . . g.28559
ATCGGGTGGAGCATCTTCTATTTCTTCAAGTCCTTCCAGTACCCGCTGCCCTGGAGTGAA c.540
I G W S I F Y F F K S F Q Y P L P W S E p.180
. . . | 05 . . . g.29298
TGTCCTGTCGTCAGGAATGGGAGCGTGGCAG | TGGTGGAGGCAGAGTGTGAAAAGAGCTCA c.600
C P V V R N G S V A V | V E A E C E K S S p.200
. . . . . . g.29358
GCCACTACCTACTTCTGGTACCGAGAGGCCTTGGACATCTCTGACTCCATCTCGGAGAGT c.660
A T T Y F W Y R E A L D I S D S I S E S p.220
. . . . . . g.29418
GGGGGCCTCAACTGGAAGATGACCCTGTGCCTCCTCGTGGCCTGGAGCATCGTGGGGATG c.720
G G L N W K M T L C L L V A W S I V G M p.240
. . . | 06 . . . g.31146
GCTGTCGTTAAGGGCATCCAGTCCTCGGGGAAG | GTGATGTATTTCAGCTCCCTCTTCCCC c.780
A V V K G I Q S S G K | V M Y F S S L F P p.260
. . . . . . g.31206
TACGTGGTGCTGGCCTGCTTCCTGGTCCGGGGGCTGTTGCTGCGAGGGGCAGTTGATGGC c.840
Y V V L A C F L V R G L L L R G A V D G p.280
. . | 07 . . . . g.46498
ATCCTACACATGTTCACTCCCAAG | CTGGACAAGATGCTGGACCCCCAGGTGTGGCGGGAG c.900
I L H M F T P K | L D K M L D P Q V W R E p.300
. . . . . . g.46558
GCAGCTACCCAGGTCTTCTTTGCCTTGGGCCTGGGCTTTGGTGGTGTCATTGCCTTCTCC c.960
A A T Q V F F A L G L G F G G V I A F S p.320
. . . . . . g.46618
AGCTACAATAAGCAGGACAACAACTGCCACTTCGATGCCGCCCTGGTGTCCTTCATCAAC c.1020
S Y N K Q D N N C H F D A A L V S F I N p.340
. . . . . . g.46678
TTCTTCACGTCAGTGTTGGCCACCCTCGTGGTGTTTGCTGTGCTGGGCTTCAAGGCCAAC c.1080
F F T S V L A T L V V F A V L G F K A N p.360
. . | 08 . . . . g.47030
ATCATGAATGAGAAGTGTGTGGTCGA | GAATGCTGAGAAAATCCTAGGGTACCTTAACACC c.1140
I M N E K C V V E | N A E K I L G Y L N T p.380
. . . . . . g.47090
AACGTCCTGAGCCGGGACCTCATCCCACCCCACGTCAACTTCTCCCACCTGACCACAAAG c.1200
N V L S R D L I P P H V N F S H L T T K p.400
. . . . . . g.47150
GACTACATGGAGATGTACAATGTCATCATGACCGTGAAGGAGGACCAGTTCTCAGCCCTG c.1260
D Y M E M Y N V I M T V K E D Q F S A L p.420
. . . | 09 . . g.49090
GGCCTTGACCCCTGCCTTCTGGAGGACGAGCTGGACAAG | TCCGTGCAGGGCACAGGCCTG c.1320
G L D P C L L E D E L D K | S V Q G T G L p.440
. . . . . . g.49150
GCCTTCATCGCCTTCACTGAGGCCATGACGCACTTCCCCGCCTCCCCGTTCTGGTCCGTC c.1380
A F I A F T E A M T H F P A S P F W S V p.460
. . . . . . g.49210
ATGTTCTTCTTGATGCTTATCAACCTGGGCCTGGGCAGCATGATCGGGACCATGGCAGGC c.1440
M F F L M L I N L G L G S M I G T M A G p.480
. . . . . | 10 . g.50084
ATCACCACGCCCATCATCGACACCTTCAAGGTGCCCAAGGAGATGTTCACAG | TGGGCTGC c.1500
I T T P I I D T F K V P K E M F T V | G C p.500
. . . . . . g.50144
TGTGTCTTTGCATTCCTCGTGGGGCTGTTGTTCGTCCAGCGCTCCGGAAACTACTTTGTC c.1560
C V F A F L V G L L F V Q R S G N Y F V p.520
. . . . . . g.50204
ACCATGTTCGATGACTACTCGGCCACCCTGCCACTCACTCTCATCGTCATCCTTGAGAAC c.1620
T M F D D Y S A T L P L T L I V I L E N p.540
. . . | 11 . . . g.51955
ATCGCTGTGGCCTGGATTTATGGAACCAAGAA | GTTCATGCAGGAGCTGACGGAGATGCTG c.1680
I A V A W I Y G T K K | F M Q E L T E M L p.560
. . . . . . g.52015
GGCTTCCGCCCCTACCGCTTCTATTTCTACATGTGGAAGTTCGTGTCTCCACTATGCATG c.1740
G F R P Y R F Y F Y M W K F V S P L C M p.580
. . . . . . g.52075
GCTGTGCTCACCACAGCCAGCATCATCCAGCTGGGGGTCACGCCCCCGGGCTACAGCGCC c.1800
A V L T T A S I I Q L G V T P P G Y S A p.600
. | 12 . . . . . g.52611
TGGATCAAGGAGGAG | GCTGCCGAGCGCTACCTGTATTTCCCCAACTGGGCCATGGCACTC c.1860
W I K E E | A A E R Y L Y F P N W A M A L p.620
. . . . . . g.52671
CTGATCACCCTCATCGTCGTGGCGACGCTGCCCATCCCTGTGGTGTTCGTCCTGCGGCAC c.1920
L I T L I V V A T L P I P V V F V L R H p.640
. . . . . . g.52731
TTCCACCTGCTCTCTGATGGCTCCAACACCCTCTCCGTGTCCTACAAGAAGGGCCGCATG c.1980
F H L L S D G S N T L S V S Y K K G R M p.660
. . . . . . g.52791
ATGAAGGACATCTCCAACCTGGAGGAGAACGATGAGACCCGCTTCATCCTCAGCAAGGTG c.2040
M K D I S N L E E N D E T R F I L S K V p.680
. . . . . . g.52851
CCCAGTGAGGCACCTTCCCCCATGCCCACTCACCGTTCCTATCTGGGGCCCGGCAGCACA c.2100
P S E A P S P M P T H R S Y L G P G S T p.700
. . . . . . g.52911
TCACCCCTGGAGACCAGCGGTAACCCCAATGGACGCTATGGGAGCGGCTACCTGCTGGCC c.2160
S P L E T S G N P N G R Y G S G Y L L A p.720
. . g.52935
AGCACCCCTGAGTCGGAGCTGTGA c.2184
S T P E S E L X p.727
. . . . . . g.52995
ccactgcccaagccctgcccgcctctccccccacgctcaacctgcccacttgtccaggcc c.*60
. . . . . . g.53055
tggcctctttcttgaggtggccaccaggcccaggccaggccctttgcccaagaagagagg c.*120
. . . . . . g.53115
gtctgccctgcctcactcccctcttcagtcccagtagactctgctccctagccctgagca c.*180
. . . . . . g.53175
ggaggctgggagcagctctgtttcctaattcaggaccccactcatctagccctccaagag c.*240
. . . . . . g.53235
cctccgccaaattgtagccatgtaattggaacaacccataaggcctgcttcccagtccat c.*300
. . . . . . g.53295
gggagattccaagtggccactgcaggagtcactcacctccctctctccctgtaacttgcc c.*360
. . . . . . g.53355
acctgcagttcttagggctgtggggtcagatggtggtggtgagaggccttggggctgggg c.*420
. . . . . . g.53415
aaggagagtggactttggctcactctgccatgagaacaggacaccatcctgcccagccca c.*480
. . . . . . g.53475
gacggggttgctcctggtccaagaggctacctgctccaaggcggagggtgggagcaggtg c.*540
. . . . . . g.53535
tgccagggctcagggctcagacttgggagggcctaggcagaagccccaagttctgttttc c.*600
. . . . . . g.53595
tgaggtatgtgctgcccttggcttcagcatgagccttggtagcagaaggtgaggaacctc c.*660
. . . . . . g.53655
ctctgccctggtccctgggtggaatcttcccatgtccttggccctgcctggggtgtgtgg c.*720
. . . . . . g.53715
tgtgtgctcctgcatcttgtctgggagtgcagtgaccgggaccagaaccttccccacctc c.*780
. . . . . . g.53775
aattagggcttagccatctccctgtccccagcacccctccccagcccacagtggtggcct c.*840
. . . . . . g.53835
ctgcctctttcctggagagagaaggacagtgcacggagaggtttccagagcacaaattgt c.*900
. . . . . . g.53895
tggttcctagcacaaattagatggtttggagcacaatggtgaagcacactcccctccctc c.*960
. . . . . . g.53955
ctcacctggggtccaatgttctgtctagtggcagcttttcccctggaacaggggtccctg c.*1020
. . . . . . g.54015
gagttcacaggcttatccccaggaagcctcactcctggggaaagacagataatttcactg c.*1080
. . . . . . g.54075
cccctttgagccaccactcactctccttattacacaagcacagccgcccagtgtgcacat c.*1140
. . . . . . g.54135
catgtgcagacaccttggaaacctttcccaagccttcctggcccacagtggccagtgcca c.*1200
. . . . . . g.54195
taggcagtgctgtggacagtagaggctgccaaaggcaagggctggtcttcaggatggagg c.*1260
. . . . . . g.54255
ccagcctgtgcagaaggctgcagctgacaacagcgaccccacctgccattaccttcaggg c.*1320
. . . . . . g.54315
cctcctctggaagagaacccattctcagagtgcagccagggaggaacctgacccaagagt c.*1380
. . . . . . g.54375
aaatgtctgcagagagatggatggatggatggatagatggatggatgggttggggagtgg c.*1440
. . . . . . g.54435
gggtggatggatggatagatggatggatggatggatggatgggttggggggtgggggtgg c.*1500
. . . . . . g.54495
atggatagatggatggatggatggacggatggggtgggggaaggaaggaaaggagggaga c.*1560
. . . . . . g.54555
aaggagggaatactggctccatctttgagagctctggtgggcagggcagaaacaggccac c.*1620
. . . . . . g.54615
agtgctcaacccggacaccctcacgaagggtcgcaagtcactcttgtggctcagattgct c.*1680
. . . . . . g.54675
cttaggacctggagggacagaccagaatcagggtcccctcctttacccctgagttcctta c.*1740
. . . . . . g.54735
ctgttcccccaagcctgggagcagtctatcccccaaccctgccatctcccttactcatcc c.*1800
. . . . . . g.54795
ctcttccacagcttcccctttctagccccctctgccctacctgtctttcctgagtgtttg c.*1860
. . . . . . g.54855
aggggagagagagacccacatctccccaaagagatgagcttttggggcacaacatcccac c.*1920
. . . . . . g.54915
cgcagtccccctcacccgacaacacctcctacctggccccttgccaaatcccaagcagaa c.*1980
. . . . . . g.54975
ttagcaacaggaaaagcagagccccaggagagacactctactatatatactcttctatat c.*2040
. . . . . . g.55035
attctgtttctattgtatattcactctgtacatgtgggtgtaaatgctgttaaatgacaa c.*2100
. . . . . . g.55095
acccaatattatactgtggctggtggactattttcatcctcagtgctgtacagatctatt c.*2160
. . . . . . g.55155
ttcattgtatatttgatatatttttaattttgtagcgtgtggctgggccaggccccagcg c.*2220
. . . . . . g.55215
ggaggggctgagctggggctgtgtgcttgctaggtgtgggcgcgctagtgctcgttgtag c.*2280
. . . . . . g.55275
ccttttgctgtgtcttcgctgtgtgttagacgtagggcctagagctcggggtgtgtgtgt c.*2340
. . . . . . g.55335
gcgtgctgtgtgtatggtgtgcacatacgtgagtgtgggtgtgtgtagcgtgctgatctg c.*2400
. . . . . . g.55395
tgactcccagtgttcaccaccttcctgaagaccacgctccctccccctgcctcctcctcc c.*2460
. . . . . . g.55455
tcctcttggctctattgggagcctcagggccggcagggtgcttcgggagccccctgctac c.*2520
. . . . . . g.55515
ggggaaaggcatgtgtttcttgctggtgactcattgccttcacaccactgggtttgccag c.*2580
. . . . . . g.55575
aaacagggaaggagggcgttaagggaaaaaaaaaatcctcaaatttatttaccagtcagc c.*2640
. . . . . . g.55635
ttcttgctgttcccagtagaatcgctagctcttctccagaggaaaagtactaggattctt c.*2700
. . . . . . g.55695
aagatggcgagaccccaagagggatctcatagcactgctgcatttgccgttgacgcagtc c.*2760
. . . . . . g.55755
ctgacagtgtttgaaaagggccgcctgccccctccccactgtgcttttgatgcctttgga c.*2820
. . . . . . g.55815
gtcaaaggcaggtggggtcacctgatgagctaagatccagccccagaatcctggaggagc c.*2880
. . . . . . g.55875
aggaggtagcaggagaggaccaggtccccaagtcccttcacagggtccccacccccactg c.*2940
. . . . . . g.55935
gctttggtgctgtccacacagtgcccaccagaaggcagagggaactccagggcagggatg c.*3000
. . . . . . g.55995
tgcctgaaagagtcaacagtcccctgatcccctacctctgcctgccctccagccccatca c.*3060
. . . . . . g.56055
ccagcttcttgctcagggagacttccgccctcctcactgaggcaacatgaagcccgaggc c.*3120
. . . . . . g.56115
ccagatgggggctgaacaggtagggcacatcagttaatgccagtgaggtcagcttctgcc c.*3180
. . . . . . g.56175
ctccagcaatacatgtgcaggggttgctgctttcccagtgccaggagaacccccgctccg c.*3240
. . . . . . g.56235
agtcagcctgtgtgggtcatgaggctggggcccaggagacacggtcccaggcactgcaca c.*3300
. . . . . . g.56295
ggcctgcagtattaccaggcggaggggctgcttttctgcccttcctcacccccacgcccc c.*3360
. . . . . . g.56355
accccactcccccagagtactccccactgtgaaaagagctggaaactaaactggttagaa c.*3420
. . . . . . g.56415
tgaacctggctccctgagcatccctggatccttcaaataggccctgagatgtgaggtctg c.*3480
. . . . . . g.56475
ctgcttcactggggcccgatgactttggctgggggagggggcctagggcctcttctcatt c.*3540
. . . . . . g.56535
gaaagctctgctttatacagacccaagcatacacaccaggccgtcactttgggttctggc c.*3600
. . . . . . g.56595
ataagttcagaacaattcaagtccatgtgtcccatggctggtcagagccctgggtcaaaa c.*3660
. . . . . . g.56655
ccactcagcccaggggaggggatgaggcattgtcaccctagacccctcttcctctctccc c.*3720
. . . g.56693
ccaccatagtgtgcaataaagtgtctgttcttaccaaa c.*3758
(downstream sequence)
Legend:
Powered by LOVD v.3.0 Build 30b
©2004-2025 Leiden University Medical Center