Canonical Allele Identifier: CA1515645756
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440251A= , CM000666.2:g.177440251A= GRCh38
NC_000004.11:g.178361405A= , CM000666.1:g.178361405A= GRCh37
NC_000004.10:g.178598399A= NCBI36
NG_011845.2:g.7253T=

Transcript Alleles

HGVS Amino-acid change
ENST00000264595.7:c.281+22T= MANE Select ENSP00000264595.2:n.281+22T=
ENST00000264595.6:c.281+22T= ENSP00000264595.2:n.281+22T=
ENST00000506853.5:n.315+22T=
ENST00000510955.5:n.315+22T=
ENST00000511231.1:n.337T=
NM_000027.3:c.281+22T= NP_000018.2:n.281+22T=
NM_001171988.1:c.281+22T= NP_001165459.1:n.281+22T=
NR_033655.1:n.409+22T=
XM_006714123.2:c.281+22T= XP_006714186.1:n.281+22T=
XR_001741155.2:n.375+22T=
NM_000027.4:c.281+22T= MANE Select NP_000018.2:n.281+22T=
NM_001171988.2:c.281+22T= NP_001165459.1:n.281+22T=
NR_033655.2:n.343+22T=