Canonical Allele Identifier: CA1515649069
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442232A= , CM000666.2:g.177442232A= GRCh38
NC_000004.11:g.178363386A= , CM000666.1:g.178363386A= GRCh37
NC_000004.10:g.178600380A= NCBI36
NG_011845.2:g.5272T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.127+17T= MANE Select ENSP00000264595.2:n.127+17T=
ENST00000264595.6:c.127+17T= ENSP00000264595.2:n.127+17T=
ENST00000506853.5:n.161+17T=
ENST00000510955.5:n.161+17T=
ENST00000511231.1:n.161+17T=
NM_000027.3:c.127+17T= NP_000018.2:n.127+17T=
NM_001171988.1:c.127+17T= NP_001165459.1:n.127+17T=
NR_033655.1:n.255+17T=
XM_006714123.2:c.127+17T= XP_006714186.1:n.127+17T=
XR_001741155.2:n.221+17T=
NM_000027.4:c.127+17T= MANE Select NP_000018.2:n.127+17T=
NM_001171988.2:c.127+17T= NP_001165459.1:n.127+17T=
NR_033655.2:n.189+17T=