Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154765211C= , CM000685.2:g.154765211C=	GRCh38
NC_000023.10:g.153993486C= , CM000685.1:g.153993486C=	GRCh37
NC_000023.9:g.153646680C=	NCBI36
NG_009780.1:g.7456C= , LRG_55:g.7456C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413910.6:c.85-233C=	ENSP00000400542.2:n.85-233C=
ENST00000426673.6:c.85-233C=	ENSP00000407253.3:n.85-233C=
ENST00000696575.1:c.85-233C=	ENSP00000512730.1:n.85-233C=
ENST00000696576.1:n.187-233C=
ENST00000696577.1:c.85-233C=	ENSP00000512731.1:n.85-233C=
ENST00000696578.1:c.85-233C=	ENSP00000512732.1:n.85-233C=
ENST00000696579.1:n.187-233C=
ENST00000696580.1:c.84+245C=	ENSP00000512733.1:n.84+245C=
ENST00000696581.1:c.85-109C=	ENSP00000512734.1:n.85-109C=
ENST00000696582.1:c.85-233C=	ENSP00000512735.1:n.85-233C=
ENST00000696583.1:c.85-233C=	ENSP00000512736.1:n.85-233C=
ENST00000696584.1:n.376C=
ENST00000696585.1:n.132-233C=
ENST00000696586.1:n.132-233C=
ENST00000696587.1:c.85-233C=	ENSP00000512737.1:n.85-233C=
ENST00000696588.1:c.-758C=	ENSP00000513251.1:n.-758C=
ENST00000696627.1:c.85-233C=	ENSP00000512764.1:n.85-233C=
ENST00000696628.1:c.85-233C=	ENSP00000512765.1:n.85-233C=
ENST00000369550.10:c.85-233C= MANE Select	ENSP00000358563.5:n.85-233C=
ENST00000369550.9:c.85-233C=	ENSP00000358563.5:n.85-233C=
ENST00000413910.5:c.85-233C=	ENSP00000400542.1:n.85-233C=
ENST00000437719.5:c.41-233C=
ENST00000452771.5:c.43-233C=	ENSP00000407325.1:n.43-233C=
ENST00000473552.1:n.138-233C=
ENST00000475423.1:n.443C=
ENST00000620277.4:c.85-233C=	ENSP00000478387.1:n.85-233C=
NM_001142463.2:c.85-233C=	NP_001135935.1:n.85-233C=
NM_001288747.1:c.85-233C=	NP_001275676.1:n.85-233C=
NM_001363.4:c.85-233C=	NP_001354.1:n.85-233C=
NR_110021.1:n.553C=
NR_110022.1:n.309-233C=
NR_110023.1:n.309-233C=
NM_001363.5:c.85-233C= MANE Select	NP_001354.1:n.85-233C=
NM_001142463.3:c.85-233C=	NP_001135935.1:n.85-233C=
NR_110021.2:n.431C=
NR_110022.2:n.187-233C=
NR_110023.2:n.187-233C=
NM_001288747.2:c.85-233C=	NP_001275676.1:n.85-233C=