Canonical Allele Identifier: CA364519377
Gene: DST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56555650T>A , CM000668.2:g.56555650T>A GRCh38
NC_000006.11:g.56420448T>A , CM000668.1:g.56420448T>A GRCh37
NC_000006.10:g.56528407T>A NCBI36
NG_029322.1:g.92247A>T
NG_029322.2:g.403979A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000421834.7:c.7940A>T ENSP00000400883.3:p.Gln2647Leu
ENST00000449297.7:c.8474A>T ENSP00000393082.3:p.Gln2825Leu
ENST00000520645.6:c.8060A>T ENSP00000431030.2:p.Gln2687Leu
ENST00000520144.2:n.802A>T
ENST00000680361.1:c.14831A>T MANE Select ENSP00000505098.1:p.Gln4944Leu
ENST00000244364.10:c.6962A>T ENSP00000244364.6:p.Gln2321Leu
ENST00000312431.10:c.8060A>T ENSP00000307959.7:p.Gln2687Leu
ENST00000361203.7:c.14198A>T ENSP00000354508.3:p.Gln4733Leu
ENST00000370754.9:c.8474A>T ENSP00000359790.6:p.Gln2825Leu
ENST00000370788.6:c.7940A>T ENSP00000359824.2:p.Gln2647Leu
ENST00000421834.6:c.7940A>T ENSP00000400883.3:p.Gln2647Leu
ENST00000520144.1:n.540A>T
NM_001144769.2:c.8474A>T NP_001138241.1:p.Gln2825Leu
NM_001144770.1:c.8060A>T NP_001138242.1:p.Gln2687Leu
NM_015548.4:c.6962A>T NP_056363.2:p.Gln2321Leu
NM_183380.3:c.7940A>T NP_899236.1:p.Gln2647Leu
XM_005249310.2:c.14831A>T XP_005249367.1:p.Gln4944Leu
XM_005249315.2:c.14732A>T XP_005249372.1:p.Gln4911Leu
XM_005249316.1:c.14546A>T XP_005249373.1:p.Gln4849Leu
XM_005249318.1:c.14417A>T XP_005249375.1:p.Gln4806Leu
XM_005249319.1:c.14318A>T XP_005249376.1:p.Gln4773Leu
XM_005249320.3:c.14297A>T XP_005249377.1:p.Gln4766Leu
XM_005249322.3:c.14276A>T XP_005249379.1:p.Gln4759Leu
XM_005249323.2:c.14198A>T XP_005249380.1:p.Gln4733Leu
XM_005249324.1:c.13220A>T XP_005249381.1:p.Gln4407Leu
XM_011514824.1:c.14759A>T XP_011513126.1:p.Gln4920Leu
XM_011514825.1:c.8501A>T XP_011513127.1:p.Gln2834Leu
XM_011514826.1:c.14198A>T XP_011513128.1:p.Gln4733Leu
XM_005249310.4:c.14831A>T XP_005249367.1:p.Gln4944Leu
XM_005249315.3:c.14732A>T XP_005249372.1:p.Gln4911Leu
XM_005249316.3:c.14546A>T XP_005249373.1:p.Gln4849Leu
XM_005249318.2:c.14417A>T XP_005249375.1:p.Gln4806Leu
XM_005249319.2:c.14318A>T XP_005249376.1:p.Gln4773Leu
XM_005249320.4:c.14297A>T XP_005249377.1:p.Gln4766Leu
XM_005249322.5:c.14276A>T XP_005249379.1:p.Gln4759Leu
XM_005249323.4:c.14198A>T XP_005249380.1:p.Gln4733Leu
XM_005249324.3:c.13220A>T XP_005249381.1:p.Gln4407Leu
XM_011514824.2:c.14759A>T XP_011513126.1:p.Gln4920Leu
XM_011514825.3:c.8501A>T XP_011513127.1:p.Gln2834Leu
XM_011514826.3:c.14198A>T XP_011513128.1:p.Gln4733Leu
XM_017011205.1:c.14858A>T XP_016866694.1:p.Gln4953Leu
XM_017011206.1:c.14858A>T XP_016866695.1:p.Gln4953Leu
XM_017011207.1:c.14795A>T XP_016866696.1:p.Gln4932Leu
XM_017011208.1:c.14858A>T XP_016866697.1:p.Gln4953Leu
XM_017011209.1:c.14858A>T XP_016866698.1:p.Gln4953Leu
XM_017011210.1:c.14858A>T XP_016866699.1:p.Gln4953Leu
XM_017011211.2:c.14858A>T XP_016866700.1:p.Gln4953Leu
XM_017011212.1:c.14624A>T XP_016866701.1:p.Gln4875Leu
XM_017011213.1:c.14858A>T XP_016866702.1:p.Gln4953Leu
XM_017011214.2:c.14858A>T XP_016866703.1:p.Gln4953Leu
XM_017011215.2:c.14858A>T XP_016866704.1:p.Gln4953Leu
XM_017011216.2:c.14858A>T XP_016866705.1:p.Gln4953Leu
XM_017011217.1:c.14234A>T XP_016866706.1:p.Gln4745Leu
XM_017011218.1:c.9425A>T XP_016866707.1:p.Gln3142Leu
XM_017011219.1:c.8600A>T XP_016866708.1:p.Gln2867Leu
XM_017011220.1:c.8474A>T XP_016866709.1:p.Gln2825Leu
XM_017011221.1:c.8366A>T XP_016866710.1:p.Gln2789Leu
XM_017011222.2:c.8288A>T XP_016866711.1:p.Gln2763Leu
XM_017011223.1:c.8600A>T XP_016866712.1:p.Gln2867Leu
XM_017011224.2:c.7940A>T XP_016866713.1:p.Gln2647Leu
XM_024446530.1:c.14177A>T XP_024302298.1:p.Gln4726Leu
NM_001144769.5:c.8474A>T NP_001138241.1:p.Gln2825Leu
NM_001144770.2:c.8060A>T NP_001138242.1:p.Gln2687Leu
NM_001374722.1:c.14831A>T NP_001361651.1:p.Gln4944Leu
NM_001374729.1:c.14198A>T NP_001361658.1:p.Gln4733Leu
NM_001374730.1:c.7940A>T NP_001361659.1:p.Gln2647Leu
NM_001374734.1:c.14858A>T NP_001361663.1:p.Gln4953Leu
NM_001374736.1:c.14831A>T MANE Select NP_001361665.1:p.Gln4944Leu
NM_015548.5:c.6962A>T NP_056363.2:p.Gln2321Leu
NM_183380.4:c.7940A>T NP_899236.1:p.Gln2647Leu
NM_001386100.1:c.7940A>T NP_001373029.1:p.Gln2647Leu