Canonical Allele Identifier: CA1515644239
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439258G= , CM000666.2:g.177439258G= GRCh38
NC_000004.11:g.178360412G= , CM000666.1:g.178360412G= GRCh37
NC_000004.10:g.178597406G= NCBI36
NG_011845.2:g.8246C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.394+318C= MANE Select ENSP00000264595.2:n.394+318C=
ENST00000264595.6:c.394+318C= ENSP00000264595.2:n.394+318C=
ENST00000502310.5:c.49+318C= ENSP00000423798.1:n.49+318C=
ENST00000506853.5:n.428+318C=
ENST00000510635.1:c.90+318C=
ENST00000510955.5:n.316-401C=
NM_000027.3:c.394+318C= NP_000018.2:n.394+318C=
NM_001171988.1:c.394+318C= NP_001165459.1:n.394+318C=
NR_033655.1:n.522+318C=
XM_006714123.2:c.394+318C= XP_006714186.1:n.394+318C=
XR_001741155.2:n.488+318C=
NM_000027.4:c.394+318C= MANE Select NP_000018.2:n.394+318C=
NM_001171988.2:c.394+318C= NP_001165459.1:n.394+318C=
NR_033655.2:n.456+318C=