Canonical Allele Identifier: CA1515646124
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177440426G= , CM000666.2:g.177440426G= GRCh38
NC_000004.11:g.178361580G= , CM000666.1:g.178361580G= GRCh37
NC_000004.10:g.178598574G= NCBI36
NG_011845.2:g.7078C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.128C= MANE Select ENSP00000264595.2:p.Ala43=
ENST00000264595.6:c.128C= ENSP00000264595.2:p.Ala43=
ENST00000506853.5:n.162C=
ENST00000510955.5:n.162C=
ENST00000511231.1:n.162C=
NM_000027.3:c.128C= NP_000018.2:p.Ala43=
NM_001171988.1:c.128C= NP_001165459.1:p.Ala43=
NR_033655.1:n.256C=
XM_006714123.2:c.128C= XP_006714186.1:p.Ala43=
XR_001741155.2:n.222C=
NM_000027.4:c.128C= MANE Select NP_000018.2:p.Ala43=
NM_001171988.2:c.128C= NP_001165459.1:p.Ala43=
NR_033655.2:n.190C=