(used for variant description)
(last modified October 6, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_021095.2 in the SLC5A6 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000002.11, covering SLC5A6 transcript NM_021095.2.
(upstream sequence)
. g.5015
gcgtcaggccctctt c.-481
. . . . . . g.5075
ccccgggcgtggcctaagcggcccggtccagtcgccctggggctgcttgggggcttttcc c.-421
. . . . . . g.5135
tgctcgtggagctctgcgctggtcttcatgcgccctagccctctttcggggatactggcc c.-361
. . . . . . g.5195
gaccccctcttccttttcccctttagtgaaggcctcccccgtcgccgcgcggcttcccgg c.-301
. . . . . . g.5255
agccgactgcagactccctcagcccggtgttccccgcgtccggacgccgaggtcgcggct c.-241
. . . . | 02 . . g.5801
tcgcagaaactcgggcccctccatccgccctca | gaaaagggagcgatgttgatctcagga c.-181
. . . . | 03 . g.9537
agcacaaagggaccttcctagctctgactgaaccacggag | ctcaccctggacagtatcac c.-121
. . . . . . g.9597
tccgtggaggaagactgtgagactgtggctggaagccagattgtagccacacatccgccc c.-61
. . . . . . g.9657
ctgccctaccccagagccctggagcagcaactggctgcagatcacagacacagtgaggat c.-1
. . . . . . g.9717
ATGAGTGTAGGGGTGAGCACCTCAGCCCCTCTTTCCCCAACCTCGGGCACAAGCGTGGGC c.60
M S V G V S T S A P L S P T S G T S V G p.20
. . . . . . g.9777
ATGTCTACCTTCTCCATCATGGACTATGTGGTGTTCGTCCTGCTGCTGGTTCTCTCTCTT c.120
M S T F S I M D Y V V F V L L L V L S L p.40
. . . . . . g.9837
GCCATTGGGCTCTACCATGCTTGTCGTGGCTGGGGCCGGCATACTGTTGGTGAGCTGCTG c.180
A I G L Y H A C R G W G R H T V G E L L p.60
. . . . . . g.9897
ATGGCGGACCGCAAAATGGGCTGCCTTCCGGTGGCACTGTCCCTGCTGGCCACCTTCCAG c.240
M A D R K M G C L P V A L S L L A T F Q p.80
. . . . . . g.9957
TCAGCCGTGGCCATCCTGGGTGTGCCGTCAGAGATCTACCGATTTGGGACCCAATATTGG c.300
S A V A I L G V P S E I Y R F G T Q Y W p.100
. . . . . . g.10017
TTCCTGGGCTGCTGCTACTTTCTGGGGCTGCTGATACCTGCACACATCTTCATCCCCGTT c.360
F L G C C Y F L G L L I P A H I F I P V p.120
. . . | 04 . . . g.10392
TTCTACCGCCTGCATCTCACCAGTGCCTATGAG | TACCTGGAGCTTCGATTCAATAAAACT c.420
F Y R L H L T S A Y E | Y L E L R F N K T p.140
. . . | 05 . . g.10794
GTGCGAGTGTGTGGAACTGTGACCTTCATCTTTCAGATG | GTGATCTACATGGGAGTTGTG c.480
V R V C G T V T F I F Q M | V I Y M G V V p.160
. . . | 06 . . . g.11243
CTCTATGCTCCGTCATTGGCTCTCAATGCAG | TGACTGGCTTTGATCTGTGGCTGTCCGTG c.540
L Y A P S L A L N A V | T G F D L W L S V p.180
. . . | 07 . . g.11824
CTGGCCCTGGGCATTGTCTGTACCGTCTATACAGCTCTG | GGTGGGCTGAAGGCCGTCATC c.600
L A L G I V C T V Y T A L | G G L K A V I p.200
. . . . . . g.11884
TGGACAGATGTGTTCCAGACACTGGTCATGTTCCTCGGGCAGCTGGCAGTTATCATTGTG c.660
W T D V F Q T L V M F L G Q L A V I I V p.220
. . . . . . g.11944
GGGTCAGCCAAGGTGGGCGGCTTGGGGCGTGTGTGGGCCGTGGCTTCCCAGCACGGCCGC c.720
G S A K V G G L G R V W A V A S Q H G R p.240
. | 08 . . . . . g.12422
ATCTCTGGGTTTGA | GCTGGATCCAGACCCCTTTGTGCGGCACACCTTCTGGACCTTGGCC c.780
I S G F E | L D P D P F V R H T F W T L A p.260
. . . . . . g.12482
TTCGGGGGTGTCTTCATGATGCTCTCCTTATACGGGGTGAACCAGGCTCAGGTGCAGCGG c.840
F G G V F M M L S L Y G V N Q A Q V Q R p.280
. . . | 09 . . . g.12742
TACCTCAGTTCCCGCACGGAGAAGGCTGCTGTGCT | CTCCTGTTATGCAGTGTTCCCCTTC c.900
Y L S S R T E K A A V L | S C Y A V F P F p.300
. . . . . . g.12802
CAGCAGGTGTCCCTCTGCGTGGGCTGCCTCATTGGCCTGGTCATGTTCGCGTATTACCAG c.960
Q Q V S L C V G C L I G L V M F A Y Y Q p.320
. . . . | 10 . . g.13455
GAGTATCCCATGAGCATTCAGCAGGCTCAGGCAGCCCCAGACCAG | TTCGTCCTGTACTTT c.1020
E Y P M S I Q Q A Q A A P D Q | F V L Y F p.340
. . . . . . g.13515
GTGATGGATCTCCTGAAGGGCCTGCCAGGCCTGCCAGGGCTCTTCATTGCCTGCCTCTTC c.1080
V M D L L K G L P G L P G L F I A C L F p.360
. | 11 . . . . . g.14008
AGCGGCTCTCTCAG | CACTATATCCTCTGCTTTTAATTCATTGGCAACTGTTACGATGGAA c.1140
S G S L S | T I S S A F N S L A T V T M E p.380
. . . . . . g.14068
GACCTGATTCGACCTTGGTTCCCTGAGTTCTCTGAAGCCCGGGCCATCATGCTTTCCAGA c.1200
D L I R P W F P E F S E A R A I M L S R p.400
| 12. . . . . . g.14480
GGCCTTG | CCTTTGGCTATGGGCTGCTTTGTCTAGGAATGGCCTATATTTCCTCCCAGATG c.1260
G L A | F G Y G L L C L G M A Y I S S Q M p.420
. | 13 . . . . . g.15278
GGACCTGTGCTGCAG | GCAGCAATCAGCATCTTTGGCATGGTTGGGGGACCGCTGCTGGGA c.1320
G P V L Q | A A I S I F G M V G G P L L G p.440
. . . . | 14 . . g.15478
CTCTTCTGCCTTGGAATGTTCTTTCCATGTGCTAACCCTCCT | GGTGCTGTTGTGGGCCTG c.1380
L F C L G M F F P C A N P P | G A V V G L p.460
. . . . . . g.15538
TTGGCTGGGCTCGTCATGGCCTTCTGGATTGGCATCGGGAGCATCGTGACCAGCATGGGC c.1440
L A G L V M A F W I G I G S I V T S M G p.480
. . . . . . g.15598
TCCAGCATGCCACCCTCTCCCTCTAATGGGTCCAGCTTCTCCCTGCCCACCAATCTAACC c.1500
S S M P P S P S N G S S F S L P T N L T p.500
. . . . | 15 . . g.15870
GTTGCCACTGTGACCACACTGATGCCCTTGACTACCTTCTCCAA | GCCCACAGGGCTGCAG c.1560
V A T V T T L M P L T T F S K | P T G L Q p.520
. . . . . . g.15930
CGGTTCTATTCCTTGTCTTACTTATGGTACAGTGCTCACAACTCCACCACAGTGATTGTG c.1620
R F Y S L S Y L W Y S A H N S T T V I V p.540
. . | 16 . . . g.16226
GTGGGCCTGATTGTCAGTCTACTCACTG | GGAGAATGCGAGGCCGGTCCCTGAACCCTGCA c.1680
V G L I V S L L T G | R M R G R S L N P A p.560
. . . . . . g.16286
ACCATTTACCCAGTGTTGCCAAAGCTCCTGTCCCTCCTTCCGTTGTCCTGTCAGAAGCGG c.1740
T I Y P V L P K L L S L L P L S C Q K R p.580
. . | 17 . . . . g.16764
CTCCACTGCAGGAGCTACGGCCAG | GACCACCTCGACACTGGCCTGTTTCCTGAGAAGCCG c.1800
L H C R S Y G Q | D H L D T G L F P E K P p.600
. . . . . . g.16824
AGGAATGGTGTGCTGGGGGACAGCAGAGACAAGGAGGCCATGGCCCTGGATGGCACAGCC c.1860
R N G V L G D S R D K E A M A L D G T A p.620
. . . . g.16872
TATCAGGGGAGCAGCTCCACCTGCATCCTCCAGGAGACCTCCCTGTGA c.1908
Y Q G S S S T C I L Q E T S L X p.635
. . . . . . g.16932
tgttgactcaggaccccgcctctgtcctcactgtgccaggccatagccagaggccaccct c.*60
. . . . . . g.16992
gtagtacagggatgagtcttggtgtgttctgcagggacaggcctggatgatctagctcat c.*120
. . . . . . g.17052
accaaaggaccttgttctgagaggttcttgcctgcaggagaagctgtcacatctcaagca c.*180
. . . . . . g.17112
tgtgaggcaccgtttttctcgtcgcttgccaatctgttttttaaaggatcaggctcgtag c.*240
. . . . . . g.17172
ggagcaggatcatgccagaaatagggatggaagtgcatcctctgggaaaaagataatggc c.*300
. . . . . . g.17232
ttctgattcaacatagccatagtcctttgaagtaagtggctagaaacagcactctggtta c.*360
. . . . . . g.17292
taattgccccagggcctgattcaggactgactctccaccataaaactggaagctgcttcc c.*420
. . . . . . g.17352
cctgtagtccccatttcagtaccagttctgccagccacagtgagcccctattattacttt c.*480
. . . . . . g.17412
cagattgtctgtgacactcaagcccctctcatttttatctgtctacctccattctgaaga c.*540
. . . . . . g.17472
gggaggttttggtgtccctggtcctctgggaatagaagatccatttgtctttgtgtagag c.*600
. . . . . . g.17532
caagcacgttttccacctcactgtctccatcctccacctctgagatggacacttaagaga c.*660
. . . . . . g.17592
cggggcaaatgtggatccaagaaaccagggccatgaccgggtccactgtggagcagccat c.*720
. . . . . . g.17652
ctatctacctgactcctgagccaggctgccgtggtgtcatttctgtcatccgtgctctgt c.*780
. . . . . . g.17712
ttccttttggagtttcttctccacattatctttgttcctggggaataaaaactaccattg c.*840
g.17721
gacctagaa c.*849
(downstream sequence)
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