Canonical Allele Identifier: CA1515637477
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434390G= , CM000666.2:g.177434390G= GRCh38
NC_000004.11:g.178355544G= , CM000666.1:g.178355544G= GRCh37
NC_000004.10:g.178592538G= NCBI36
NG_011845.2:g.13114C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.798C= MANE Select ENSP00000264595.2:p.Phe266=
ENST00000264595.6:c.798C= ENSP00000264595.2:p.Phe266=
ENST00000502310.5:c.369C= ENSP00000423798.1:p.Phe123=
ENST00000506853.5:n.756C=
NM_000027.3:c.798C= NP_000018.2:p.Phe266=
NM_001171988.1:c.768C= NP_001165459.1:p.Phe256=
NR_033655.1:n.850C=
XR_001741155.2:n.870C=
NM_000027.4:c.798C= MANE Select NP_000018.2:p.Phe266=
NM_001171988.2:c.768C= NP_001165459.1:p.Phe256=
NR_033655.2:n.784C=