Canonical Allele Identifier: CA364519780
Gene: DST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.56555742T>A , CM000668.2:g.56555742T>A GRCh38
NC_000006.11:g.56420540T>A , CM000668.1:g.56420540T>A GRCh37
NC_000006.10:g.56528499T>A NCBI36
NG_029322.1:g.92155A>T
NG_029322.2:g.403887A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000421834.7:c.7848A>T ENSP00000400883.3:p.Leu2616Phe
ENST00000449297.7:c.8382A>T ENSP00000393082.3:p.Leu2794Phe
ENST00000520645.6:c.7968A>T ENSP00000431030.2:p.Leu2656Phe
ENST00000520144.2:n.710A>T
ENST00000680361.1:c.14739A>T MANE Select ENSP00000505098.1:p.Leu4913Phe
ENST00000244364.10:c.6870A>T ENSP00000244364.6:p.Leu2290Phe
ENST00000312431.10:c.7968A>T ENSP00000307959.7:p.Leu2656Phe
ENST00000361203.7:c.14106A>T ENSP00000354508.3:p.Leu4702Phe
ENST00000370754.9:c.8382A>T ENSP00000359790.6:p.Leu2794Phe
ENST00000370788.6:c.7848A>T ENSP00000359824.2:p.Leu2616Phe
ENST00000421834.6:c.7848A>T ENSP00000400883.3:p.Leu2616Phe
ENST00000520144.1:n.448A>T
NM_001144769.2:c.8382A>T NP_001138241.1:p.Leu2794Phe
NM_001144770.1:c.7968A>T NP_001138242.1:p.Leu2656Phe
NM_015548.4:c.6870A>T NP_056363.2:p.Leu2290Phe
NM_183380.3:c.7848A>T NP_899236.1:p.Leu2616Phe
XM_005249310.2:c.14739A>T XP_005249367.1:p.Leu4913Phe
XM_005249315.2:c.14640A>T XP_005249372.1:p.Leu4880Phe
XM_005249316.1:c.14454A>T XP_005249373.1:p.Leu4818Phe
XM_005249318.1:c.14325A>T XP_005249375.1:p.Leu4775Phe
XM_005249319.1:c.14226A>T XP_005249376.1:p.Leu4742Phe
XM_005249320.3:c.14205A>T XP_005249377.1:p.Leu4735Phe
XM_005249322.3:c.14184A>T XP_005249379.1:p.Leu4728Phe
XM_005249323.2:c.14106A>T XP_005249380.1:p.Leu4702Phe
XM_005249324.1:c.13128A>T XP_005249381.1:p.Leu4376Phe
XM_011514824.1:c.14667A>T XP_011513126.1:p.Leu4889Phe
XM_011514825.1:c.8409A>T XP_011513127.1:p.Leu2803Phe
XM_011514826.1:c.14106A>T XP_011513128.1:p.Leu4702Phe
XM_005249310.4:c.14739A>T XP_005249367.1:p.Leu4913Phe
XM_005249315.3:c.14640A>T XP_005249372.1:p.Leu4880Phe
XM_005249316.3:c.14454A>T XP_005249373.1:p.Leu4818Phe
XM_005249318.2:c.14325A>T XP_005249375.1:p.Leu4775Phe
XM_005249319.2:c.14226A>T XP_005249376.1:p.Leu4742Phe
XM_005249320.4:c.14205A>T XP_005249377.1:p.Leu4735Phe
XM_005249322.5:c.14184A>T XP_005249379.1:p.Leu4728Phe
XM_005249323.4:c.14106A>T XP_005249380.1:p.Leu4702Phe
XM_005249324.3:c.13128A>T XP_005249381.1:p.Leu4376Phe
XM_011514824.2:c.14667A>T XP_011513126.1:p.Leu4889Phe
XM_011514825.3:c.8409A>T XP_011513127.1:p.Leu2803Phe
XM_011514826.3:c.14106A>T XP_011513128.1:p.Leu4702Phe
XM_017011205.1:c.14766A>T XP_016866694.1:p.Leu4922Phe
XM_017011206.1:c.14766A>T XP_016866695.1:p.Leu4922Phe
XM_017011207.1:c.14703A>T XP_016866696.1:p.Leu4901Phe
XM_017011208.1:c.14766A>T XP_016866697.1:p.Leu4922Phe
XM_017011209.1:c.14766A>T XP_016866698.1:p.Leu4922Phe
XM_017011210.1:c.14766A>T XP_016866699.1:p.Leu4922Phe
XM_017011211.2:c.14766A>T XP_016866700.1:p.Leu4922Phe
XM_017011212.1:c.14532A>T XP_016866701.1:p.Leu4844Phe
XM_017011213.1:c.14766A>T XP_016866702.1:p.Leu4922Phe
XM_017011214.2:c.14766A>T XP_016866703.1:p.Leu4922Phe
XM_017011215.2:c.14766A>T XP_016866704.1:p.Leu4922Phe
XM_017011216.2:c.14766A>T XP_016866705.1:p.Leu4922Phe
XM_017011217.1:c.14142A>T XP_016866706.1:p.Leu4714Phe
XM_017011218.1:c.9333A>T XP_016866707.1:p.Leu3111Phe
XM_017011219.1:c.8508A>T XP_016866708.1:p.Leu2836Phe
XM_017011220.1:c.8382A>T XP_016866709.1:p.Leu2794Phe
XM_017011221.1:c.8274A>T XP_016866710.1:p.Leu2758Phe
XM_017011222.2:c.8196A>T XP_016866711.1:p.Leu2732Phe
XM_017011223.1:c.8508A>T XP_016866712.1:p.Leu2836Phe
XM_017011224.2:c.7848A>T XP_016866713.1:p.Leu2616Phe
XM_024446530.1:c.14085A>T XP_024302298.1:p.Leu4695Phe
NM_001144769.5:c.8382A>T NP_001138241.1:p.Leu2794Phe
NM_001144770.2:c.7968A>T NP_001138242.1:p.Leu2656Phe
NM_001374722.1:c.14739A>T NP_001361651.1:p.Leu4913Phe
NM_001374729.1:c.14106A>T NP_001361658.1:p.Leu4702Phe
NM_001374730.1:c.7848A>T NP_001361659.1:p.Leu2616Phe
NM_001374734.1:c.14766A>T NP_001361663.1:p.Leu4922Phe
NM_001374736.1:c.14739A>T MANE Select NP_001361665.1:p.Leu4913Phe
NM_015548.5:c.6870A>T NP_056363.2:p.Leu2290Phe
NM_183380.4:c.7848A>T NP_899236.1:p.Leu2616Phe
NM_001386100.1:c.7848A>T NP_001373029.1:p.Leu2616Phe