Canonical Allele Identifier: CA1515644469
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439464A= , CM000666.2:g.177439464A= GRCh38
NC_000004.11:g.178360618A= , CM000666.1:g.178360618A= GRCh37
NC_000004.10:g.178597612A= NCBI36
NG_011845.2:g.8040T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.394+112T= MANE Select ENSP00000264595.2:n.394+112T=
ENST00000264595.6:c.394+112T= ENSP00000264595.2:n.394+112T=
ENST00000502310.5:c.49+112T= ENSP00000423798.1:n.49+112T=
ENST00000506853.5:n.428+112T=
ENST00000510635.1:c.90+112T=
ENST00000510955.5:n.316-607T=
NM_000027.3:c.394+112T= NP_000018.2:n.394+112T=
NM_001171988.1:c.394+112T= NP_001165459.1:n.394+112T=
NR_033655.1:n.522+112T=
XM_006714123.2:c.394+112T= XP_006714186.1:n.394+112T=
XR_001741155.2:n.488+112T=
NM_000027.4:c.394+112T= MANE Select NP_000018.2:n.394+112T=
NM_001171988.2:c.394+112T= NP_001165459.1:n.394+112T=
NR_033655.2:n.456+112T=