Canonical Allele Identifier: CA1515644236
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439256C= , CM000666.2:g.177439256C= GRCh38
NC_000004.11:g.178360410C= , CM000666.1:g.178360410C= GRCh37
NC_000004.10:g.178597404C= NCBI36
NG_011845.2:g.8248G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.394+320G= MANE Select ENSP00000264595.2:n.394+320G=
ENST00000264595.6:c.394+320G= ENSP00000264595.2:n.394+320G=
ENST00000502310.5:c.49+320G= ENSP00000423798.1:n.49+320G=
ENST00000506853.5:n.428+320G=
ENST00000510635.1:c.90+320G=
ENST00000510955.5:n.316-399G=
NM_000027.3:c.394+320G= NP_000018.2:n.394+320G=
NM_001171988.1:c.394+320G= NP_001165459.1:n.394+320G=
NR_033655.1:n.522+320G=
XM_006714123.2:c.394+320G= XP_006714186.1:n.394+320G=
XR_001741155.2:n.488+320G=
NM_000027.4:c.394+320G= MANE Select NP_000018.2:n.394+320G=
NM_001171988.2:c.394+320G= NP_001165459.1:n.394+320G=
NR_033655.2:n.456+320G=