Canonical Allele Identifier: CA1515637595

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434418G= , CM000666.2:g.177434418G=	GRCh38
NC_000004.11:g.178355572G= , CM000666.1:g.178355572G=	GRCh37
NC_000004.10:g.178592566G=	NCBI36
NG_011845.2:g.13086C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.770C= MANE Select	ENSP00000264595.2:p.Thr257=
ENST00000264595.6:c.770C=	ENSP00000264595.2:p.Thr257=
ENST00000502310.5:c.341C=	ENSP00000423798.1:p.Thr114=
ENST00000506853.5:n.728C=
NM_000027.3:c.770C=	NP_000018.2:p.Thr257=
NM_001171988.1:c.740C=	NP_001165459.1:p.Thr247=
NR_033655.1:n.822C=
XM_006714123.2:c.*64C=	XP_006714186.1:n.*64C=
XR_001741155.2:n.842C=
NM_000027.4:c.770C= MANE Select	NP_000018.2:p.Thr257=
NM_001171988.2:c.740C=	NP_001165459.1:p.Thr247=
NR_033655.2:n.756C=