Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50170059C= , CM000679.2:g.50170059C=	GRCh38
NC_000017.10:g.48247420C= , CM000679.1:g.48247420C=	GRCh37
NC_000017.9:g.45602419C=	NCBI36
NG_008889.1:g.9055C= , LRG_203:g.9055C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000504073.2:c.598-84C=	ENSP00000422030.2:n.598-84C=
ENST00000511303.6:n.310-581C=
ENST00000512526.2:c.576-581C=	ENSP00000426606.2:n.576-581C=
ENST00000682109.1:c.628-84C=	ENSP00000508041.1:n.628-84C=
ENST00000683226.1:n.1262C=
ENST00000683294.1:c.748-5C=	ENSP00000508134.1:n.748-5C=
ENST00000683544.1:n.30C=
ENST00000262018.8:c.748-84C= MANE Select	ENSP00000262018.3:n.748-84C=
ENST00000262018.7:c.748-84C=	ENSP00000262018.3:n.748-84C=
ENST00000344627.10:c.585-581C=	ENSP00000345522.6:n.585-581C=
ENST00000504073.1:c.65-84C=
ENST00000511303.5:c.306-581C=	ENSP00000426104.1:n.306-581C=
ENST00000512526.1:c.420-581C=
ENST00000513821.5:c.748-581C=	ENSP00000426571.1:n.748-581C=
ENST00000513942.5:n.376-581C=
NM_000023.2:c.748-84C= , LRG_203t1:c.748-84C=	NP_000014.1:n.748-84C=
NM_001135697.1:c.585-581C=	NP_001129169.1:n.585-581C=
XM_011525120.1:c.748-84C=	XP_011523422.1:n.748-84C=
XM_011525121.1:c.598-84C=	XP_011523423.1:n.598-84C=
XM_011525122.1:c.748-581C=	XP_011523424.1:n.748-581C=
XM_011525123.1:c.585-581C=	XP_011523425.1:n.585-581C=
XM_011525124.1:c.442-84C=	XP_011523426.1:n.442-84C=
XR_934517.1:n.814-581C=
NM_000023.3:c.748-84C=	NP_000014.1:n.748-84C=
NM_001135697.2:c.585-581C=	NP_001129169.1:n.585-581C=
NR_135553.1:n.804-581C=
XM_011525120.2:c.910-84C=	XP_011523422.2:n.910-84C=
XM_011525121.2:c.760-84C=	XP_011523423.2:n.760-84C=
XM_011525122.2:c.910-581C=	XP_011523424.2:n.910-581C=
XM_011525123.2:c.747-581C=	XP_011523425.2:n.747-581C=
XM_011525124.2:c.442-84C=	XP_011523426.1:n.442-84C=
XM_024450873.1:c.442-84C=	XP_024306641.1:n.442-84C=
XR_002958056.1:n.1266-5C=
NM_000023.4:c.748-84C= MANE Select	NP_000014.1:n.748-84C=
NM_001135697.3:c.585-581C=	NP_001129169.1:n.585-581C=
NR_135553.2:n.784-581C=