(used for variant description)
(last modified January 26, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_205850.2 in the SLC24A5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000015.9, covering SLC24A5 transcript NM_205850.2.
(upstream sequence)
. g.5013
cctcacatgatcc c.-61
. . . . . . g.5073
agtttaatcctcctcttctcccttcctgaagctgcacgctgcagtaagagcacagcagaa c.-1
. . . . . . g.5133
ATGCAGACAAAAGGGGGCCAAACATGGGCGAGAAGGGCTCTGTTGCTCGGCATCCTGTGG c.60
M Q T K G G Q T W A R R A L L L G I L W p.20
. . . . . . g.5193
GCCACTGCACATCTGCCTCTCTCAGGGACCTCCCTGCCCCAACGTCTCCCAAGGGCCACA c.120
A T A H L P L S G T S L P Q R L P R A T p.40
| 02 . . . . . . g.5944
G | GAAATAGCACCCAATGTGTTATTTCTCCATCATCGGAGTTTCCCGAAGGGTTTTTCACG c.180
G | N S T Q C V I S P S S E F P E G F F T p.60
. . . . . . g.6004
AGACAGGAGCGCAGAGATGGAGGCATCATAATCTATTTCCTAATTATCGTTTACATGTTC c.240
R Q E R R D G G I I I Y F L I I V Y M F p.80
. . . . . . g.6064
ATGGCCATATCTATTGTCTGTGATGAATACTTCCTACCCTCCCTGGAAATCATCAGTGAA c.300
M A I S I V C D E Y F L P S L E I I S E p.100
| 03 . . . . . . g.18345
T | CCCTTGGATTGTCTCAGGATGTTGCAGGCACAACTTTCATGGCAGCGGGCAGTTCAGCT c.360
S | L G L S Q D V A G T T F M A A G S S A p.120
. . | 04 . . . . g.18498
CCTGAATTAGTTACTGCTTTCCTAG | GTGTATTTATCACAAAGGGAGATATTGGCATTAGC c.420
P E L V T A F L G | V F I T K G D I G I S p.140
. . . . . . g.18558
ACCATCCTTGGATCTGCAATTTATAATCTCCTTGGCATCTGTGCTGCCTGTGGTTTGCTA c.480
T I L G S A I Y N L L G I C A A C G L L p.160
| 05 . . . . . g.18963
TCTAATACG | GTCTCAACACTATCATGTTGGCCCCTATTCAGAGACTGTGCAGCGTACACA c.540
S N T | V S T L S C W P L F R D C A A Y T p.180
. . . . . | 06 . g.20721
ATTAGTGCAGCAGCAGTTCTTGGTATAATATATGACAACCAAGTTTACTG | GTATGAAGGG c.600
I S A A A V L G I I Y D N Q V Y W | Y E G p.200
. . . . . . g.20781
GCTTTACTGCTTTTGATATATGGATTGTATGTTTTGGTGCTGTGTTTTGACATTAAAATT c.660
A L L L L I Y G L Y V L V L C F D I K I p.220
. . . . . . g.20841
AACCAATATATTATAAAGAAATGCAGTCCTTGCTGCGCCTGTCTTGCCAAAGCTATGGAG c.720
N Q Y I I K K C S P C C A C L A K A M E p.240
. . . . . . g.20901
AGAAGTGAACAACAGCCACTGATGGGCTGGGAAGATGAAGGTCAACCATTCATTCGTCGG c.780
R S E Q Q P L M G W E D E G Q P F I R R p.260
. . . . . . g.20961
CAATCAAGAACTGATAGTGGAATATTTTATGAAGATTCTGGCTACTCTCAGCTCTCTATA c.840
Q S R T D S G I F Y E D S G Y S Q L S I p.280
. . . | 07 . . . g.23026
AGTTTACATGGCCTTAGTCAGGTTTCTGAAG | ATCCACCAAGTGTTTTCAACATGCCTGAA c.900
S L H G L S Q V S E D | P P S V F N M P E p.300
. . . . . . g.23086
GCAGACTTAAAAAGAATTTTTTGGGTATTATCCCTTCCTATTATTACATTACTTTTTCTA c.960
A D L K R I F W V L S L P I I T L L F L p.320
. . . . . . g.23146
ACCACACCAGATTGTAGAAAAAAGTTTTGGAAAAACTACTTTGTGATAACCTTTTTCATG c.1020
T T P D C R K K F W K N Y F V I T F F M p.340
. . . . . | 08 g.25143
TCTGCAATATGGATATCCGCATTTACATATATCCTGGTTTGGATGGTCACAATAACTG | GG c.1080
S A I W I S A F T Y I L V W M V T I T G | p.360
. . . . . . g.25203
GAAACACTAGAAATTCCCGATACAGTAATGGGCCTTACTTTATTAGCAGCAGGAACAAGC c.1140
E T L E I P D T V M G L T L L A A G T S p.380
. . . . | 09 . . g.26077
ATACCAGACACAATTGCAAGTGTGTTGGTTGCAAGAAAAG | GGAAAGGAGATATGGCTATG c.1200
I P D T I A S V L V A R K G | K G D M A M p.400
. . . . . . g.26137
TCTAACATCGTGGGATCCAATGTGTTTGATATGTTGTGCCTTGGTATTCCATGGTTTATT c.1260
S N I V G S N V F D M L C L G I P W F I p.420
. . . . . . g.26197
AAAACTGCATTTATAAATGGATCAGCTCCTGCAGAAGTAAACAGCAGAGGACTAACTTAC c.1320
K T A F I N G S A P A E V N S R G L T Y p.440
. . . . . . g.26257
ATAACCATCTCTCTCAACATTTCAATTATTTTTCTTTTTTTAGCAGTTCACTTCAATGGC c.1380
I T I S L N I S I I F L F L A V H F N G p.460
. . . . . . g.26317
TGGAAACTAGACAGAAAGTTGGGAATAGTCTGCCTATTATCATACTTGGGGCTTGCTACA c.1440
W K L D R K L G I V C L L S Y L G L A T p.480
. . . . . . g.26377
TTATCAGTTCTATATGAACTTGGAATTATTGGAAATAATAAAATAAGGGGCTGTGGAGGT c.1500
L S V L Y E L G I I G N N K I R G C G G p.500
g.26380
TGA c.1503
X p.500
. . . . g.26421
tattattaatagtgttatgcagaaaatatgaatggcaggga c.*41
(downstream sequence)
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