Canonical Allele Identifier: CA1515649419
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442330G= , CM000666.2:g.177442330G= GRCh38
NC_000004.11:g.178363484G= , CM000666.1:g.178363484G= GRCh37
NC_000004.10:g.178600478G= NCBI36
NG_011845.2:g.5174C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.46C= MANE Select ENSP00000264595.2:p.Leu16=
ENST00000264595.6:c.46C= ENSP00000264595.2:p.Leu16=
ENST00000506853.5:n.80C=
ENST00000510955.5:n.80C=
ENST00000511231.1:n.80C=
NM_000027.3:c.46C= NP_000018.2:p.Leu16=
NM_001171988.1:c.46C= NP_001165459.1:p.Leu16=
NR_033655.1:n.174C=
XM_006714123.2:c.46C= XP_006714186.1:p.Leu16=
XR_001741155.2:n.140C=
NM_000027.4:c.46C= MANE Select NP_000018.2:p.Leu16=
NM_001171988.2:c.46C= NP_001165459.1:p.Leu16=
NR_033655.2:n.108C=