Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.139352609T= , CM000665.2:g.139352609T=	GRCh38
NC_000003.11:g.139071451T= , CM000665.1:g.139071451T=	GRCh37
NC_000003.10:g.140554141T=	NCBI36
NG_012174.1:g.13591T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478464.6:c.523-38T=	ENSP00000419303.2:n.523-38T=
ENST00000480644.2:c.649-38T=	ENSP00000420229.2:n.649-38T=
ENST00000492644.2:n.2949T=
ENST00000684961.1:c.352-38T=	ENSP00000508439.1:n.352-38T=
ENST00000686433.1:c.679-38T=	ENSP00000509173.1:n.679-38T=
ENST00000687538.1:c.523-38T=	ENSP00000508887.1:n.523-38T=
ENST00000688697.1:c.733-38T=	ENSP00000510396.1:n.733-38T=
ENST00000689286.1:c.523-38T=	ENSP00000509897.1:n.523-38T=
ENST00000689925.1:c.*74-38T=	ENSP00000510082.1:n.*74-38T=
ENST00000690298.1:c.*374-38T=	ENSP00000509376.1:n.*374-38T=
ENST00000691070.1:c.649-38T=	ENSP00000509723.1:n.649-38T=
ENST00000692727.1:n.3255-38T=
ENST00000693155.1:n.1410-38T=
ENST00000310776.9:c.730-38T=	ENSP00000310785.5:n.730-38T=
ENST00000680020.1:c.733-38T= MANE Select	ENSP00000505414.1:n.733-38T=
ENST00000310776.8:c.733-38T=	ENSP00000310785.4:n.733-38T=
ENST00000465056.5:c.730-38T=	ENSP00000418233.1:n.730-38T=
ENST00000478464.5:c.610-38T=	ENSP00000419303.1:n.610-38T=
ENST00000480644.1:c.218-38T=
ENST00000480938.5:n.1387-38T=
ENST00000492644.1:n.1740T=
ENST00000495075.5:c.733-38T=	ENSP00000418008.1:n.733-38T=
ENST00000498505.5:c.*330-38T=	ENSP00000420482.1:n.*330-38T=
NM_020191.2:c.733-38T=	NP_064576.1:n.733-38T=
XM_005247640.2:c.730-38T=	XP_005247697.1:n.730-38T=
XM_006713703.2:c.679-38T=	XP_006713766.1:n.679-38T=
XM_011512995.1:c.610-38T=	XP_011511297.1:n.610-38T=
XM_011512996.1:c.607-38T=	XP_011511298.1:n.607-38T=
NM_001363857.1:c.610-38T=	NP_001350786.1:n.610-38T=
NM_001363893.1:c.730-38T=	NP_001350822.1:n.730-38T=
NM_020191.3:c.733-38T=	NP_064576.1:n.733-38T=
XM_006713703.4:c.679-38T=	XP_006713766.1:n.679-38T=
XM_011512996.2:c.607-38T=	XP_011511298.1:n.607-38T=
NM_020191.4:c.733-38T= MANE Select	NP_064576.1:n.733-38T=