Canonical Allele Identifier: CA1515644999
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439691G= , CM000666.2:g.177439691G= GRCh38
NC_000004.11:g.178360845G= , CM000666.1:g.178360845G= GRCh37
NC_000004.10:g.178597839G= NCBI36
NG_011845.2:g.7813C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.282-3C= MANE Select ENSP00000264595.2:n.282-3C=
ENST00000264595.6:c.282-3C= ENSP00000264595.2:n.282-3C=
ENST00000506853.5:n.316-3C=
ENST00000510955.5:n.315+582C=
NM_000027.3:c.282-3C= NP_000018.2:n.282-3C=
NM_001171988.1:c.282-3C= NP_001165459.1:n.282-3C=
NR_033655.1:n.410-3C=
XM_006714123.2:c.282-3C= XP_006714186.1:n.282-3C=
XR_001741155.2:n.376-3C=
NM_000027.4:c.282-3C= MANE Select NP_000018.2:n.282-3C=
NM_001171988.2:c.282-3C= NP_001165459.1:n.282-3C=
NR_033655.2:n.344-3C=