Canonical Allele Identifier: CA3866054
Gene: DST HGNC NCBI

Linked Data

ClinVar Variation Id: 1164480
dbSNP Id: rs11758339
gnomAD v2: 6-56327849-C-T
gnomAD v3: 6-56463051-C-T
gnomAD v4: 6-56463051-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56463051C>T , CM000668.2:g.56463051C>T GRCh38
NC_000006.11:g.56327849C>T , CM000668.1:g.56327849C>T GRCh37
NC_000006.10:g.56435808C>T NCBI36
NG_029322.1:g.184846G>A
NG_029322.2:g.496578G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000421834.7:c.16102G>A ENSP00000400883.3:p.Ala5368Thr
ENST00000449297.7:c.16291G>A ENSP00000393082.3:p.Ala5431Thr
ENST00000520645.6:c.15877G>A ENSP00000431030.2:p.Ala5293Thr
ENST00000340834.10:c.7644+514G>A ENSP00000489032.2:n.7644+514G>A
ENST00000651289.1:c.1484G>A
ENST00000651457.1:n.4681+514G>A
ENST00000651790.1:c.3656+514G>A
ENST00000651941.1:n.7453+514G>A
ENST00000680361.1:c.23065G>A MANE Select ENSP00000505098.1:p.Ala7689Thr
ENST00000244364.10:c.15124G>A ENSP00000244364.6:p.Ala5042Thr
ENST00000312431.10:c.16222G>A ENSP00000307959.7:p.Ala5408Thr
ENST00000361203.7:c.21999+514G>A ENSP00000354508.3:n.21999+514G>A
ENST00000370754.9:c.16636G>A ENSP00000359790.6:p.Ala5546Thr
ENST00000370788.6:c.15741+514G>A ENSP00000359824.2:n.15741+514G>A
ENST00000421834.6:c.16102G>A ENSP00000400883.3:p.Ala5368Thr
ENST00000466429.5:n.858G>A
ENST00000482156.5:n.1705G>A
ENST00000523292.5:c.392+514G>A
ENST00000523597.1:n.538G>A
NM_001144769.2:c.16636G>A NP_001138241.1:p.Ala5546Thr
NM_001144770.1:c.16222G>A NP_001138242.1:p.Ala5408Thr
NM_015548.4:c.15124G>A NP_056363.2:p.Ala5042Thr
NM_183380.3:c.16102G>A NP_899236.1:p.Ala5368Thr
XM_005249310.2:c.23065G>A XP_005249367.1:p.Ala7689Thr
XM_005249315.2:c.22966G>A XP_005249372.1:p.Ala7656Thr
XM_005249316.1:c.22780G>A XP_005249373.1:p.Ala7594Thr
XM_005249318.1:c.22651G>A XP_005249375.1:p.Ala7551Thr
XM_005249319.1:c.22552G>A XP_005249376.1:p.Ala7518Thr
XM_005249320.3:c.22531G>A XP_005249377.1:p.Ala7511Thr
XM_005249322.3:c.22510G>A XP_005249379.1:p.Ala7504Thr
XM_005249323.2:c.22432G>A XP_005249380.1:p.Ala7478Thr
XM_005249324.1:c.21454G>A XP_005249381.1:p.Ala7152Thr
XM_011514824.1:c.22993G>A XP_011513126.1:p.Ala7665Thr
XM_011514825.1:c.16663G>A XP_011513127.1:p.Ala5555Thr
XM_011514826.1:c.21999+514G>A XP_011513128.1:n.21999+514G>A
XM_005249310.4:c.23065G>A XP_005249367.1:p.Ala7689Thr
XM_005249315.3:c.22966G>A XP_005249372.1:p.Ala7656Thr
XM_005249316.3:c.22780G>A XP_005249373.1:p.Ala7594Thr
XM_005249318.2:c.22651G>A XP_005249375.1:p.Ala7551Thr
XM_005249319.2:c.22552G>A XP_005249376.1:p.Ala7518Thr
XM_005249320.4:c.22531G>A XP_005249377.1:p.Ala7511Thr
XM_005249322.5:c.22510G>A XP_005249379.1:p.Ala7504Thr
XM_005249323.4:c.22432G>A XP_005249380.1:p.Ala7478Thr
XM_005249324.3:c.21454G>A XP_005249381.1:p.Ala7152Thr
XM_011514824.2:c.22993G>A XP_011513126.1:p.Ala7665Thr
XM_011514825.3:c.16663G>A XP_011513127.1:p.Ala5555Thr
XM_011514826.3:c.21999+514G>A XP_011513128.1:n.21999+514G>A
XM_017011205.1:c.23092G>A XP_016866694.1:p.Ala7698Thr
XM_017011206.1:c.23074G>A XP_016866695.1:p.Ala7692Thr
XM_017011207.1:c.23029G>A XP_016866696.1:p.Ala7677Thr
XM_017011208.1:c.23020G>A XP_016866697.1:p.Ala7674Thr
XM_017011209.1:c.23002G>A XP_016866698.1:p.Ala7668Thr
XM_017011210.1:c.22986+514G>A XP_016866699.1:n.22986+514G>A
XM_017011211.2:c.22914+514G>A XP_016866700.1:n.22914+514G>A
XM_017011212.1:c.22858G>A XP_016866701.1:p.Ala7620Thr
XM_017011213.1:c.22765G>A XP_016866702.1:p.Ala7589Thr
XM_017011214.2:c.22693G>A XP_016866703.1:p.Ala7565Thr
XM_017011215.2:c.22659+514G>A XP_016866704.1:n.22659+514G>A
XM_017011216.2:c.22587+514G>A XP_016866705.1:n.22587+514G>A
XM_017011217.1:c.22468G>A XP_016866706.1:p.Ala7490Thr
XM_017011218.1:c.17659G>A XP_016866707.1:p.Ala5887Thr
XM_017011219.1:c.16834G>A XP_016866708.1:p.Ala5612Thr
XM_017011220.1:c.16708G>A XP_016866709.1:p.Ala5570Thr
XM_017011221.1:c.16600G>A XP_016866710.1:p.Ala5534Thr
XM_017011222.2:c.16522G>A XP_016866711.1:p.Ala5508Thr
XM_017011223.1:c.16507G>A XP_016866712.1:p.Ala5503Thr
XM_017011224.2:c.15741+514G>A XP_016866713.1:n.15741+514G>A
XM_024446530.1:c.22411G>A XP_024302298.1:p.Ala7471Thr
NM_001144769.5:c.16636G>A NP_001138241.1:p.Ala5546Thr
NM_001144770.2:c.16222G>A NP_001138242.1:p.Ala5408Thr
NM_001374722.1:c.22993G>A NP_001361651.1:p.Ala7665Thr
NM_001374729.1:c.21999+514G>A NP_001361658.1:n.21999+514G>A
NM_001374730.1:c.15741+514G>A NP_001361659.1:n.15741+514G>A
NM_001374734.1:c.23020G>A NP_001361663.1:p.Ala7674Thr
NM_001374736.1:c.23065G>A MANE Select NP_001361665.1:p.Ala7689Thr
NM_015548.5:c.15124G>A NP_056363.2:p.Ala5042Thr
NM_183380.4:c.16102G>A NP_899236.1:p.Ala5368Thr
NM_001386100.1:c.16084G>A NP_001373029.1:p.Ala5362Thr