Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170049T= , CM000679.2:g.50170049T=	GRCh38
NC_000017.10:g.48247410T= , CM000679.1:g.48247410T=	GRCh37
NC_000017.9:g.45602409T=	NCBI36
NG_008889.1:g.9045T= , LRG_203:g.9045T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.598-94T=	ENSP00000422030.2:n.598-94T=
ENST00000511303.6:n.310-591T=
ENST00000512526.2:c.576-591T=	ENSP00000426606.2:n.576-591T=
ENST00000682109.1:c.628-94T=	ENSP00000508041.1:n.628-94T=
ENST00000683226.1:n.1252T=
ENST00000683294.1:c.748-15T=	ENSP00000508134.1:n.748-15T=
ENST00000683544.1:n.20T=
ENST00000262018.8:c.748-94T= MANE Select	ENSP00000262018.3:n.748-94T=
ENST00000262018.7:c.748-94T=	ENSP00000262018.3:n.748-94T=
ENST00000344627.10:c.585-591T=	ENSP00000345522.6:n.585-591T=
ENST00000504073.1:c.65-94T=
ENST00000511303.5:c.306-591T=	ENSP00000426104.1:n.306-591T=
ENST00000512526.1:c.420-591T=
ENST00000513821.5:c.748-591T=	ENSP00000426571.1:n.748-591T=
ENST00000513942.5:n.376-591T=
NM_000023.2:c.748-94T= , LRG_203t1:c.748-94T=	NP_000014.1:n.748-94T=
NM_001135697.1:c.585-591T=	NP_001129169.1:n.585-591T=
XM_011525120.1:c.748-94T=	XP_011523422.1:n.748-94T=
XM_011525121.1:c.598-94T=	XP_011523423.1:n.598-94T=
XM_011525122.1:c.748-591T=	XP_011523424.1:n.748-591T=
XM_011525123.1:c.585-591T=	XP_011523425.1:n.585-591T=
XM_011525124.1:c.442-94T=	XP_011523426.1:n.442-94T=
XR_934517.1:n.814-591T=
NM_000023.3:c.748-94T=	NP_000014.1:n.748-94T=
NM_001135697.2:c.585-591T=	NP_001129169.1:n.585-591T=
NR_135553.1:n.804-591T=
XM_011525120.2:c.910-94T=	XP_011523422.2:n.910-94T=
XM_011525121.2:c.760-94T=	XP_011523423.2:n.760-94T=
XM_011525122.2:c.910-591T=	XP_011523424.2:n.910-591T=
XM_011525123.2:c.747-591T=	XP_011523425.2:n.747-591T=
XM_011525124.2:c.442-94T=	XP_011523426.1:n.442-94T=
XM_024450873.1:c.442-94T=	XP_024306641.1:n.442-94T=
XR_002958056.1:n.1266-15T=
NM_000023.4:c.748-94T= MANE Select	NP_000014.1:n.748-94T=
NM_001135697.3:c.585-591T=	NP_001129169.1:n.585-591T=
NR_135553.2:n.784-591T=