(used for variant description)
(last modified March 9, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_025243.3 in the SLC19A3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_016359.1, covering SLC19A3 transcript NM_025243.3.
(upstream sequence)
. . g.5029
caagagcgcctggatccatccgacagccg c.-61
. . . . . . | 02 g.20711
cgggtgcgtggtcgtgcggcaagtgagcgatttggtgaacagacactcccttctgtag | cc c.-1
. . . . . . g.20771
ATGGATTGTTACAGAACTTCACTAAGCAGTTCCTGGATTTACCCCACTGTGATCCTCTGC c.60
M D C Y R T S L S S S W I Y P T V I L C p.20
. . . . . . g.20831
TTATTTGGTTTTTTCTCCATGATGAGACCCTCAGAACCATTCCTTATCCCATATTTATCT c.120
L F G F F S M M R P S E P F L I P Y L S p.40
. . . | 03 . . . g.23495
GGACCAGATAAAAACCTGACCAGTGCAGAG | ATAACAAATGAGATCTTCCCCGTTTGGACA c.180
G P D K N L T S A E | I T N E I F P V W T p.60
. . . . . . g.23555
TACTCCTACCTGGTGCTGCTGCTGCCTGTGTTTGTCCTCACCGATTATGTCCGCTACAAG c.240
Y S Y L V L L L P V F V L T D Y V R Y K p.80
. . . . . . g.23615
CCAGTCATCATCTTGCAAGGTATCAGTTTCATCATTACCTGGCTGCTGCTGTTGTTTGGC c.300
P V I I L Q G I S F I I T W L L L L F G p.100
. . . . . . g.23675
CAAGGAGTGAAGACCATGCAGGTTGTAGAGTTCTTCTATGGGATGGTCACCGCCGCCGAG c.360
Q G V K T M Q V V E F F Y G M V T A A E p.120
. . . . . . g.23735
GTGGCCTACTACGCCTACATATACAGCGTGGTCAGCCCCGAGCACTACCAGAGAGTGAGC c.420
V A Y Y A Y I Y S V V S P E H Y Q R V S p.140
. . . . . . g.23795
GGCTACTGCAGGAGCGTCACGCTGGCCGCCTACACAGCAGGGTCGGTGCTGGCTCAACTC c.480
G Y C R S V T L A A Y T A G S V L A Q L p.160
. . . . . . g.23855
TTGGTATCCCTGGCGAACATGTCGTACTTTTACCTCAACGTCATATCCTTGGCCTCTGTC c.540
L V S L A N M S Y F Y L N V I S L A S V p.180
. . . . . . g.23915
TCCGTGGCTTTCCTTTTCTCACTTTTCCTACCAATGCCCAAGAAAAGCATGTTTTTTCAT c.600
S V A F L F S L F L P M P K K S M F F H p.200
. . . . . . g.23975
GCAAAACCCAGCAGAGAAATAAAGAAGTCATCAAGCGTGAATCCAGTATTAGAGGAAACT c.660
A K P S R E I K K S S S V N P V L E E T p.220
. . . . . . g.24035
CACGAAGGTGAAGCACCAGGCTGTGAAGAGCAGAAACCCACATCAGAAATACTCAGCACT c.720
H E G E A P G C E E Q K P T S E I L S T p.240
. . . . . . g.24095
TCAGGGAAGCTGAATAAGGGCCAGCTGAACAGCCTGAAACCAAGCAATGTGACTGTGGAC c.780
S G K L N K G Q L N S L K P S N V T V D p.260
. . . . . . g.24155
GTTTTTGTGCAGTGGTTCCAAGATTTGAAGGAGTGCTACTCCTCAAAACGTCTTTTCTAC c.840
V F V Q W F Q D L K E C Y S S K R L F Y p.280
. . . . . . g.24215
TGGTCTCTATGGTGGGCTTTCGCCACAGCAGGTTTTAACCAGGTTTTGAACTATGTTCAA c.900
W S L W W A F A T A G F N Q V L N Y V Q p.300
. . . . . . g.24275
ATCCTGTGGGATTACAAGGCGCCATCCCAAGATTCTTCCATCTATAATGGGGCCGTAGAA c.960
I L W D Y K A P S Q D S S I Y N G A V E p.320
. | 04 . . . . g.26989
GCTATTGCAACCTTTGGAG | GGGCTGTGGCTGCCTTTGCAGTGGGTTATGTGAAAGTCAAC c.1020
A I A T F G G | A V A A F A V G Y V K V N p.340
. . . . . . g.27049
TGGGACCTTCTGGGAGAGCTGGCTCTGGTGGTCTTCTCAGTTGTCAATGCCGGTTCTTTA c.1080
W D L L G E L A L V V F S V V N A G S L p.360
. . . . . . g.27109
TTTCTCATGCATTACACAGCCAATATCTGGGCGTGCTATGCTGGCTATTTGATATTCAAG c.1140
F L M H Y T A N I W A C Y A G Y L I F K p.380
. . . | 05 . . . g.34750
TCCAGCTATATGCTTCTTATAACCATAGCAGT | ATTTCAGATTGCAGTTAATCTGAATGTG c.1200
S S Y M L L I T I A V | F Q I A V N L N V p.400
. . . . . . g.34810
GAACGCTATGCCTTGGTATTTGGAATCAACACCTTTATTGCCTTGGTGATTCAGACCATC c.1260
E R Y A L V F G I N T F I A L V I Q T I p.420
. . . . . | 06 . g.35462
ATGACTGTGATTGTAGTAGATCAGAGAGGGCTCAACTTGCCAGTCAGCATTCAG | TTTTTA c.1320
M T V I V V D Q R G L N L P V S I Q | F L p.440
. . . . . . g.35522
GTTTATGGGAGCTATTTTGCAGTAATTGCTGGAATTTTCCTAATGAGAAGCATGTATATT c.1380
V Y G S Y F A V I A G I F L M R S M Y I p.460
. . . . . . g.35582
ACCTACTCAACCAAATCCCAGAAGGATGTACAGAGCCCTGCTCCAAGTGAGAATCCAGAT c.1440
T Y S T K S Q K D V Q S P A P S E N P D p.480
. . . . . g.35633
GTGTCTCACCCAGAGGAAGAGAGTAATATCATCATGTCAACAAAACTCTAA c.1491
V S H P E E E S N I I M S T K L X p.496
. . . . . . g.35693
cctcatcgcaacaaacgcaacagtggctttcaaagttatgcaataataaggaaagatttt c.*60
. . . . . . g.35753
gagatgggtggcatatgttttgccataacttgacatgctttgcaaatctggattccaatg c.*120
. . . . . . g.35813
gacctttcaaaaccacaacaaaacctcagttttagatgagttctctatgtgaccaatttt c.*180
. . . . . . g.35873
actggatgcaattgacaggacccgtcatcataattaaacaacccatattggggaccccct c.*240
. . . . . . g.35933
gtgactagtagcagctggaaaattctggtttttatcacttgtaaagacatgcagatggcg c.*300
. . . . . . g.35993
tggaaccaaaccatgagaaaactccagccatcctggagttgatattcaccatttgtgagg c.*360
. . . . . . g.36053
agaaatactaactggactgaccctattgctaggcttaaatacttatttgatcttaccaaa c.*420
. . . . . . g.36113
gaagtcaacacatgggacctttgtgtcacatgaaccattttctttcctcttctattaagt c.*480
. . . . . . g.36173
gtatttctgtttaagttacagttctctaagagaattacaatgtttgtcccatttctaagg c.*540
. . . . . . g.36233
gcttctcttcaactctaataacagcattattcacgttatgatttgatagtattattattt c.*600
. . . . . . g.36293
aatttttttatgattattttccattttgtgctctgagttttgctgttgaaagtctccctc c.*660
. . . . . . g.36353
aagaatagcttcagatcctcttgtgtatttgcagaatacacaaggtcatttcccagtggc c.*720
. . . . . . g.36413
ctgggagaggcagtgagccttctctccaccaccatagacaggtgttaatgcatctatggg c.*780
. . . . . . g.36473
ccaggtgcagtggctcactcctgtaatccgagcaatttgggaggccaaggtgggagtttt c.*840
. . . . . . g.36533
gcttgaggccagaggttcaagaccagcctgggcaacacagtgacacctgactctactaaa c.*900
. . . . . . g.36593
aaattaaaaaattagctgggcagcgtggtgtgtgcctgtagtctcagctacttgggaggc c.*960
. . . . . . g.36653
catggtgggaggatgggttgagcacaggagtcagaggctacagtgagctatgattgcacc c.*1020
. . . . . . g.36713
attgcactccagcctgggcaacagagtaagactctcatccccctcctcccaaaaaagagc c.*1080
. . . . . . g.36773
acctgtgtggtgtctgtctaaaataggaaaacttaaaggaggtttctagaagtattagaa c.*1140
. . . . . . g.36833
ataagaaaacactgatggggggagtggaataaaacacctgattttgttttgttttggttt c.*1200
. . . . . . g.36893
ttgagacagtctcgctctctcacccaggctggaatgcaatggcgtgatcttggctcactg c.*1260
. . . . . . g.36953
caaacttcacctcctgagttcaagccattctcctacctcagcctcccaagtagctgggac c.*1320
. . . . . . g.37013
tatgggtgcacaccaccacgcctggctaatttttgtatttttagtggagatggggtttca c.*1380
. . . . . . g.37073
caatgttggccaggctggtctcaaactcctgacttcaggtgatctgtctgcctcggcctc c.*1440
. . . . . . g.37133
ccaaagagctgagattacaggcgtgagccaccatgcctggccaaaacacctgatttttaa c.*1500
. . . . . . g.37193
atggtagcaattgtgctaaataaaatgtgtaaaaattttaaagagttgttaacatttttt c.*1560
. . . . . . g.37253
gatgaattctgctgaaaattatctgaacatacctgtttttcgaaacttcaagaaacttca c.*1620
. . . . . . g.37313
ataagggatgcattgagcagtctgacagtgagaataaagaatgctgagtcaagatttata c.*1680
. . . . . . g.37373
ttaaggctggaagctgtggctcacacctgtaatcccagcattttgggaggctgaagtgag c.*1740
. . . . . . g.37433
aggttaatttgagggtaggggtatgagaccatcttggccaatatagcaagaccctgtgtc c.*1800
. . . . . . g.37493
taaaacaaacaaaaaaatttttaattggattttgatatggtttggatctgtgtccccacc c.*1860
. . . . . . g.37553
aaatctcacgttgaagtgtaatccccaatgttagaggtggggccggctgggaggcgactg c.*1920
. . . . . . g.37613
gatcatgggtgtgaagccttcatgaatggtttggcaccgtcccctcagtgctggtctcat c.*1980
. . . . . . g.37673
gacagtgagttatcgtgagatctggtagtttaaaagtgtgtagcacctccccactctctc c.*2040
. . . . . . g.37733
tttctcctgctttggccacgtgaagatgcctgctcccactttgccttctgccatgagtaa c.*2100
. . . . . . g.37793
aaattccccgaggactccctagaagcagatgttgccacgcttcctatatagcctgtgagc c.*2160
. . g.37820
taattaaaccccttttcttacaaacta c.*2187
(downstream sequence)
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