Canonical Allele Identifier: CA1515644633
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439582C= , CM000666.2:g.177439582C= GRCh38
NC_000004.11:g.178360736C= , CM000666.1:g.178360736C= GRCh37
NC_000004.10:g.178597730C= NCBI36
NG_011845.2:g.7922G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.388G= MANE Select ENSP00000264595.2:p.Glu130=
ENST00000264595.6:c.388G= ENSP00000264595.2:p.Glu130=
ENST00000502310.5:c.43G= ENSP00000423798.1:p.Glu15=
ENST00000506853.5:n.422G=
ENST00000510635.1:c.84G=
ENST00000510955.5:n.315+691G=
NM_000027.3:c.388G= NP_000018.2:p.Glu130=
NM_001171988.1:c.388G= NP_001165459.1:p.Glu130=
NR_033655.1:n.516G=
XM_006714123.2:c.388G= XP_006714186.1:p.Glu130=
XR_001741155.2:n.482G=
NM_000027.4:c.388G= MANE Select NP_000018.2:p.Glu130=
NM_001171988.2:c.388G= NP_001165459.1:p.Glu130=
NR_033655.2:n.450G=