Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87932997T>A , CM000672.2:g.87932997T>A	GRCh38
NC_000010.10:g.89692754T>A , CM000672.1:g.89692754T>A	GRCh37
NC_000010.9:g.89682734T>A	NCBI36
NG_007466.2:g.74559T>A , LRG_311:g.74559T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.254-16T>A	ENSP00000514759.2:n.254-16T>A
ENST00000710265.1:c.254-16T>A	ENSP00000518161.1:n.254-16T>A
ENST00000472832.3:c.254-16T>A	ENSP00000483066.2:n.254-16T>A
ENST00000688158.2:n.989-16T>A
ENST00000688922.2:c.*84-16T>A	ENSP00000508742.2:n.*84-16T>A
ENST00000700021.1:c.209-16T>A	ENSP00000514757.1:n.209-16T>A
ENST00000700022.1:c.254-16T>A	ENSP00000514758.1:n.254-16T>A
ENST00000700029.1:c.88-16T>A
ENST00000706954.1:c.254-16T>A	ENSP00000516674.1:n.254-16T>A
ENST00000706955.1:c.*289-16T>A	ENSP00000516675.1:n.*289-16T>A
ENST00000686459.1:c.254-16T>A	ENSP00000508909.1:n.254-16T>A
ENST00000688158.1:c.*365-16T>A	ENSP00000509254.1:n.*365-16T>A
ENST00000688308.1:c.254-16T>A	ENSP00000508752.1:n.254-16T>A
ENST00000688922.1:c.175-16T>A
ENST00000693560.1:c.773-16T>A	ENSP00000509861.1:n.773-16T>A
ENST00000371953.8:c.254-16T>A MANE Select	ENSP00000361021.3:n.254-16T>A
ENST00000371953.7:c.254-16T>A	ENSP00000361021.3:n.254-16T>A
ENST00000498703.1:n.80-16T>A
ENST00000610634.1:c.152-16T>A	ENSP00000477517.1:n.152-16T>A
NM_000314.5:c.254-16T>A	NP_000305.3:n.254-16T>A
NM_000314.6:c.254-16T>A	NP_000305.3:n.254-16T>A
NM_001304717.2:c.773-16T>A	NP_001291646.2:n.773-16T>A
NM_001304718.1:c.-497-16T>A	NP_001291647.1:n.-497-16T>A
XM_006717926.2:c.209-16T>A	XP_006717989.1:n.209-16T>A
XM_011539981.1:c.254-16T>A	XP_011538283.1:n.254-16T>A
XM_011539982.1:c.158-16T>A	XP_011538284.1:n.158-16T>A
XR_945789.1:n.966-16T>A
XR_945790.1:n.966-16T>A
XR_945791.1:n.966-16T>A
NM_000314.7:c.254-16T>A	NP_000305.3:n.254-16T>A
NM_001304717.5:c.773-16T>A	NP_001291646.4:n.773-16T>A
NM_001304718.2:c.-497-16T>A	NP_001291647.1:n.-497-16T>A
NM_000314.8:c.254-16T>A MANE Select	NP_000305.3:n.254-16T>A

Linked Data

Genomic Alleles

Transcript Alleles