Canonical Allele Identifier: CA1515637677

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177434444G= , CM000666.2:g.177434444G=	GRCh38
NC_000004.11:g.178355598G= , CM000666.1:g.178355598G=	GRCh37
NC_000004.10:g.178592592G=	NCBI36
NG_011845.2:g.13060C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.744C= MANE Select	ENSP00000264595.2:p.Asp248=
ENST00000264595.6:c.744C=	ENSP00000264595.2:p.Asp248=
ENST00000502310.5:c.315C=	ENSP00000423798.1:p.Asp105=
ENST00000506853.5:n.702C=
ENST00000510635.1:c.410C=
NM_000027.3:c.744C=	NP_000018.2:p.Asp248=
NM_001171988.1:c.714C=	NP_001165459.1:p.Asp238=
NR_033655.1:n.796C=
XM_006714123.2:c.*38C=	XP_006714186.1:n.*38C=
XR_001741155.2:n.816C=
NM_000027.4:c.744C= MANE Select	NP_000018.2:p.Asp248=
NM_001171988.2:c.714C=	NP_001165459.1:p.Asp238=
NR_033655.2:n.730C=