Canonical Allele Identifier: CA1515644252

Gene: AGA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177439275G= , CM000666.2:g.177439275G=	GRCh38
NC_000004.11:g.178360429G= , CM000666.1:g.178360429G=	GRCh37
NC_000004.10:g.178597423G=	NCBI36
NG_011845.2:g.8229C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.394+301C= MANE Select	ENSP00000264595.2:n.394+301C=
ENST00000264595.6:c.394+301C=	ENSP00000264595.2:n.394+301C=
ENST00000502310.5:c.49+301C=	ENSP00000423798.1:n.49+301C=
ENST00000506853.5:n.428+301C=
ENST00000510635.1:c.90+301C=
ENST00000510955.5:n.316-418C=
NM_000027.3:c.394+301C=	NP_000018.2:n.394+301C=
NM_001171988.1:c.394+301C=	NP_001165459.1:n.394+301C=
NR_033655.1:n.522+301C=
XM_006714123.2:c.394+301C=	XP_006714186.1:n.394+301C=
XR_001741155.2:n.488+301C=
NM_000027.4:c.394+301C= MANE Select	NP_000018.2:n.394+301C=
NM_001171988.2:c.394+301C=	NP_001165459.1:n.394+301C=
NR_033655.2:n.456+301C=