Canonical Allele Identifier: CA1515646622
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440763A= , CM000666.2:g.177440763A= GRCh38
NC_000004.11:g.178361917A= , CM000666.1:g.178361917A= GRCh37
NC_000004.10:g.178598911A= NCBI36
NG_011845.2:g.6741T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128-337T= MANE Select ENSP00000264595.2:n.128-337T=
ENST00000264595.6:c.128-337T= ENSP00000264595.2:n.128-337T=
ENST00000506853.5:n.162-337T=
ENST00000510955.5:n.162-337T=
ENST00000511231.1:n.162-337T=
NM_000027.3:c.128-337T= NP_000018.2:n.128-337T=
NM_001171988.1:c.128-337T= NP_001165459.1:n.128-337T=
NR_033655.1:n.256-337T=
XM_006714123.2:c.128-337T= XP_006714186.1:n.128-337T=
XR_001741155.2:n.222-337T=
NM_000027.4:c.128-337T= MANE Select NP_000018.2:n.128-337T=
NM_001171988.2:c.128-337T= NP_001165459.1:n.128-337T=
NR_033655.2:n.190-337T=