Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.56615937A>T , CM000668.2:g.56615937A>T	GRCh38
NC_000006.11:g.56480735A>T , CM000668.1:g.56480735A>T	GRCh37
NC_000006.10:g.56588694A>T	NCBI36
NG_029322.1:g.31960T>A
NG_029322.2:g.343692T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000421834.7:c.4297-1453T>A	ENSP00000400883.3:n.4297-1453T>A
ENST00000449297.7:c.4831-1453T>A	ENSP00000393082.3:n.4831-1453T>A
ENST00000520645.6:c.4417-1453T>A	ENSP00000431030.2:n.4417-1453T>A
ENST00000370765.11:c.7530T>A MANE Plus Clinical	ENSP00000359801.6:p.Asp2510Glu
ENST00000652573.1:c.4645-1453T>A	ENSP00000498983.1:n.4645-1453T>A
ENST00000680361.1:c.4930-1453T>A MANE Select	ENSP00000505098.1:n.4930-1453T>A
ENST00000244364.10:c.3319-1453T>A	ENSP00000244364.6:n.3319-1453T>A
ENST00000312431.10:c.4417-1453T>A	ENSP00000307959.7:n.4417-1453T>A
ENST00000361203.7:c.4297-1453T>A	ENSP00000354508.3:n.4297-1453T>A
ENST00000370754.9:c.4831-1453T>A	ENSP00000359790.6:n.4831-1453T>A
ENST00000370765.10:c.7530T>A	ENSP00000359801.6:p.Asp2510Glu
ENST00000370788.6:c.4297-1453T>A	ENSP00000359824.2:n.4297-1453T>A
ENST00000421834.6:c.4297-1453T>A	ENSP00000400883.3:n.4297-1453T>A
ENST00000439203.5:c.3319-1453T>A	ENSP00000404924.1:n.3319-1453T>A
ENST00000520645.5:c.4417-1453T>A	ENSP00000431030.1:n.4417-1453T>A
NM_001144769.2:c.4831-1453T>A	NP_001138241.1:n.4831-1453T>A
NM_001144770.1:c.4417-1453T>A	NP_001138242.1:n.4417-1453T>A
NM_001723.5:c.7530T>A	NP_001714.1:p.Asp2510Glu
NM_015548.4:c.3319-1453T>A	NP_056363.2:n.3319-1453T>A
NM_183380.3:c.4297-1453T>A	NP_899236.1:n.4297-1453T>A
XM_005249310.2:c.4930-1453T>A	XP_005249367.1:n.4930-1453T>A
XM_005249315.2:c.4831-1453T>A	XP_005249372.1:n.4831-1453T>A
XM_005249316.1:c.4645-1453T>A	XP_005249373.1:n.4645-1453T>A
XM_005249318.1:c.4516-1453T>A	XP_005249375.1:n.4516-1453T>A
XM_005249319.1:c.4417-1453T>A	XP_005249376.1:n.4417-1453T>A
XM_005249320.3:c.4396-1453T>A	XP_005249377.1:n.4396-1453T>A
XM_005249322.3:c.4375-1453T>A	XP_005249379.1:n.4375-1453T>A
XM_005249323.2:c.4297-1453T>A	XP_005249380.1:n.4297-1453T>A
XM_005249324.1:c.3319-1453T>A	XP_005249381.1:n.3319-1453T>A
XM_011514824.1:c.4858-1453T>A	XP_011513126.1:n.4858-1453T>A
XM_011514825.1:c.4858-1453T>A	XP_011513127.1:n.4858-1453T>A
XM_011514826.1:c.4297-1453T>A	XP_011513128.1:n.4297-1453T>A
XM_005249310.4:c.4930-1453T>A	XP_005249367.1:n.4930-1453T>A
XM_005249315.3:c.4831-1453T>A	XP_005249372.1:n.4831-1453T>A
XM_005249316.3:c.4645-1453T>A	XP_005249373.1:n.4645-1453T>A
XM_005249318.2:c.4516-1453T>A	XP_005249375.1:n.4516-1453T>A
XM_005249319.2:c.4417-1453T>A	XP_005249376.1:n.4417-1453T>A
XM_005249320.4:c.4396-1453T>A	XP_005249377.1:n.4396-1453T>A
XM_005249322.5:c.4375-1453T>A	XP_005249379.1:n.4375-1453T>A
XM_005249323.4:c.4297-1453T>A	XP_005249380.1:n.4297-1453T>A
XM_005249324.3:c.3319-1453T>A	XP_005249381.1:n.3319-1453T>A
XM_011514824.2:c.4858-1453T>A	XP_011513126.1:n.4858-1453T>A
XM_011514825.3:c.4858-1453T>A	XP_011513127.1:n.4858-1453T>A
XM_011514826.3:c.4297-1453T>A	XP_011513128.1:n.4297-1453T>A
XM_017011205.1:c.4957-1453T>A	XP_016866694.1:n.4957-1453T>A
XM_017011206.1:c.4957-1453T>A	XP_016866695.1:n.4957-1453T>A
XM_017011207.1:c.4894-1453T>A	XP_016866696.1:n.4894-1453T>A
XM_017011208.1:c.4957-1453T>A	XP_016866697.1:n.4957-1453T>A
XM_017011209.1:c.4957-1453T>A	XP_016866698.1:n.4957-1453T>A
XM_017011210.1:c.4957-1453T>A	XP_016866699.1:n.4957-1453T>A
XM_017011211.2:c.4957-1453T>A	XP_016866700.1:n.4957-1453T>A
XM_017011212.1:c.4957-1453T>A	XP_016866701.1:n.4957-1453T>A
XM_017011213.1:c.4957-1453T>A	XP_016866702.1:n.4957-1453T>A
XM_017011214.2:c.4957-1453T>A	XP_016866703.1:n.4957-1453T>A
XM_017011215.2:c.4957-1453T>A	XP_016866704.1:n.4957-1453T>A
XM_017011216.2:c.4957-1453T>A	XP_016866705.1:n.4957-1453T>A
XM_017011217.1:c.4333-1453T>A	XP_016866706.1:n.4333-1453T>A
XM_017011219.1:c.4957-1453T>A	XP_016866708.1:n.4957-1453T>A
XM_017011220.1:c.4831-1453T>A	XP_016866709.1:n.4831-1453T>A
XM_017011221.1:c.4957-1453T>A	XP_016866710.1:n.4957-1453T>A
XM_017011222.2:c.4645-1453T>A	XP_016866711.1:n.4645-1453T>A
XM_017011223.1:c.4957-1453T>A	XP_016866712.1:n.4957-1453T>A
XM_017011224.2:c.4297-1453T>A	XP_016866713.1:n.4297-1453T>A
XM_017011225.2:c.9168T>A	XP_016866714.1:p.Asp3056Glu
XM_024446530.1:c.4276-1453T>A	XP_024302298.1:n.4276-1453T>A
NM_001144769.5:c.4831-1453T>A	NP_001138241.1:n.4831-1453T>A
NM_001144770.2:c.4417-1453T>A	NP_001138242.1:n.4417-1453T>A
NM_001374722.1:c.4930-1453T>A	NP_001361651.1:n.4930-1453T>A
NM_001374729.1:c.4297-1453T>A	NP_001361658.1:n.4297-1453T>A
NM_001374730.1:c.4297-1453T>A	NP_001361659.1:n.4297-1453T>A
NM_001374734.1:c.4957-1453T>A	NP_001361663.1:n.4957-1453T>A
NM_001374736.1:c.4930-1453T>A MANE Select	NP_001361665.1:n.4930-1453T>A
NM_001723.6:c.7530T>A	NP_001714.1:p.Asp2510Glu
NM_015548.5:c.3319-1453T>A	NP_056363.2:n.3319-1453T>A
NM_183380.4:c.4297-1453T>A	NP_899236.1:n.4297-1453T>A
NM_001386100.1:c.4297-1453T>A	NP_001373029.1:n.4297-1453T>A
NM_001723.7:c.7530T>A MANE Plus Clinical	NP_001714.1:p.Asp2510Glu

Linked Data

Genomic Alleles

Transcript Alleles