Canonical Allele Identifier: CA3867934
Gene: DST HGNC NCBI

Linked Data

ClinVar Variation Id: 1164481
dbSNP Id: rs11756977
gnomAD v2: 6-56420538-C-T
gnomAD v3: 6-56555740-C-T
gnomAD v4: 6-56555740-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56555740C>T , CM000668.2:g.56555740C>T GRCh38
NC_000006.11:g.56420538C>T , CM000668.1:g.56420538C>T GRCh37
NC_000006.10:g.56528497C>T NCBI36
NG_029322.1:g.92157G>A
NG_029322.2:g.403889G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000421834.7:c.7850G>A ENSP00000400883.3:p.Arg2617His
ENST00000449297.7:c.8384G>A ENSP00000393082.3:p.Arg2795His
ENST00000520645.6:c.7970G>A ENSP00000431030.2:p.Arg2657His
ENST00000520144.2:n.712G>A
ENST00000680361.1:c.14741G>A MANE Select ENSP00000505098.1:p.Arg4914His
ENST00000244364.10:c.6872G>A ENSP00000244364.6:p.Arg2291His
ENST00000312431.10:c.7970G>A ENSP00000307959.7:p.Arg2657His
ENST00000361203.7:c.14108G>A ENSP00000354508.3:p.Arg4703His
ENST00000370754.9:c.8384G>A ENSP00000359790.6:p.Arg2795His
ENST00000370788.6:c.7850G>A ENSP00000359824.2:p.Arg2617His
ENST00000421834.6:c.7850G>A ENSP00000400883.3:p.Arg2617His
ENST00000520144.1:n.450G>A
NM_001144769.2:c.8384G>A NP_001138241.1:p.Arg2795His
NM_001144770.1:c.7970G>A NP_001138242.1:p.Arg2657His
NM_015548.4:c.6872G>A NP_056363.2:p.Arg2291His
NM_183380.3:c.7850G>A NP_899236.1:p.Arg2617His
XM_005249310.2:c.14741G>A XP_005249367.1:p.Arg4914His
XM_005249315.2:c.14642G>A XP_005249372.1:p.Arg4881His
XM_005249316.1:c.14456G>A XP_005249373.1:p.Arg4819His
XM_005249318.1:c.14327G>A XP_005249375.1:p.Arg4776His
XM_005249319.1:c.14228G>A XP_005249376.1:p.Arg4743His
XM_005249320.3:c.14207G>A XP_005249377.1:p.Arg4736His
XM_005249322.3:c.14186G>A XP_005249379.1:p.Arg4729His
XM_005249323.2:c.14108G>A XP_005249380.1:p.Arg4703His
XM_005249324.1:c.13130G>A XP_005249381.1:p.Arg4377His
XM_011514824.1:c.14669G>A XP_011513126.1:p.Arg4890His
XM_011514825.1:c.8411G>A XP_011513127.1:p.Arg2804His
XM_011514826.1:c.14108G>A XP_011513128.1:p.Arg4703His
XM_005249310.4:c.14741G>A XP_005249367.1:p.Arg4914His
XM_005249315.3:c.14642G>A XP_005249372.1:p.Arg4881His
XM_005249316.3:c.14456G>A XP_005249373.1:p.Arg4819His
XM_005249318.2:c.14327G>A XP_005249375.1:p.Arg4776His
XM_005249319.2:c.14228G>A XP_005249376.1:p.Arg4743His
XM_005249320.4:c.14207G>A XP_005249377.1:p.Arg4736His
XM_005249322.5:c.14186G>A XP_005249379.1:p.Arg4729His
XM_005249323.4:c.14108G>A XP_005249380.1:p.Arg4703His
XM_005249324.3:c.13130G>A XP_005249381.1:p.Arg4377His
XM_011514824.2:c.14669G>A XP_011513126.1:p.Arg4890His
XM_011514825.3:c.8411G>A XP_011513127.1:p.Arg2804His
XM_011514826.3:c.14108G>A XP_011513128.1:p.Arg4703His
XM_017011205.1:c.14768G>A XP_016866694.1:p.Arg4923His
XM_017011206.1:c.14768G>A XP_016866695.1:p.Arg4923His
XM_017011207.1:c.14705G>A XP_016866696.1:p.Arg4902His
XM_017011208.1:c.14768G>A XP_016866697.1:p.Arg4923His
XM_017011209.1:c.14768G>A XP_016866698.1:p.Arg4923His
XM_017011210.1:c.14768G>A XP_016866699.1:p.Arg4923His
XM_017011211.2:c.14768G>A XP_016866700.1:p.Arg4923His
XM_017011212.1:c.14534G>A XP_016866701.1:p.Arg4845His
XM_017011213.1:c.14768G>A XP_016866702.1:p.Arg4923His
XM_017011214.2:c.14768G>A XP_016866703.1:p.Arg4923His
XM_017011215.2:c.14768G>A XP_016866704.1:p.Arg4923His
XM_017011216.2:c.14768G>A XP_016866705.1:p.Arg4923His
XM_017011217.1:c.14144G>A XP_016866706.1:p.Arg4715His
XM_017011218.1:c.9335G>A XP_016866707.1:p.Arg3112His
XM_017011219.1:c.8510G>A XP_016866708.1:p.Arg2837His
XM_017011220.1:c.8384G>A XP_016866709.1:p.Arg2795His
XM_017011221.1:c.8276G>A XP_016866710.1:p.Arg2759His
XM_017011222.2:c.8198G>A XP_016866711.1:p.Arg2733His
XM_017011223.1:c.8510G>A XP_016866712.1:p.Arg2837His
XM_017011224.2:c.7850G>A XP_016866713.1:p.Arg2617His
XM_024446530.1:c.14087G>A XP_024302298.1:p.Arg4696His
NM_001144769.5:c.8384G>A NP_001138241.1:p.Arg2795His
NM_001144770.2:c.7970G>A NP_001138242.1:p.Arg2657His
NM_001374722.1:c.14741G>A NP_001361651.1:p.Arg4914His
NM_001374729.1:c.14108G>A NP_001361658.1:p.Arg4703His
NM_001374730.1:c.7850G>A NP_001361659.1:p.Arg2617His
NM_001374734.1:c.14768G>A NP_001361663.1:p.Arg4923His
NM_001374736.1:c.14741G>A MANE Select NP_001361665.1:p.Arg4914His
NM_015548.5:c.6872G>A NP_056363.2:p.Arg2291His
NM_183380.4:c.7850G>A NP_899236.1:p.Arg2617His
NM_001386100.1:c.7850G>A NP_001373029.1:p.Arg2617His