Canonical Allele Identifier: CA1515645740
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440240A= , CM000666.2:g.177440240A= GRCh38
NC_000004.11:g.178361394A= , CM000666.1:g.178361394A= GRCh37
NC_000004.10:g.178598388A= NCBI36
NG_011845.2:g.7264T=

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.281+33T= MANE Select ENSP00000264595.2:n.281+33T=
ENST00000264595.6:c.281+33T= ENSP00000264595.2:n.281+33T=
ENST00000506853.5:n.315+33T=
ENST00000510955.5:n.315+33T=
ENST00000511231.1:n.348T=
NM_000027.3:c.281+33T= NP_000018.2:n.281+33T=
NM_001171988.1:c.281+33T= NP_001165459.1:n.281+33T=
NR_033655.1:n.409+33T=
XM_006714123.2:c.281+33T= XP_006714186.1:n.281+33T=
XR_001741155.2:n.375+33T=
NM_000027.4:c.281+33T= MANE Select NP_000018.2:n.281+33T=
NM_001171988.2:c.281+33T= NP_001165459.1:n.281+33T=
NR_033655.2:n.343+33T=