Canonical Allele Identifier: CA1515649313
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177442291G= , CM000666.2:g.177442291G= GRCh38
NC_000004.11:g.178363445G= , CM000666.1:g.178363445G= GRCh37
NC_000004.10:g.178600439G= NCBI36
NG_011845.2:g.5213C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.85C= MANE Select ENSP00000264595.2:p.Leu29=
ENST00000264595.6:c.85C= ENSP00000264595.2:p.Leu29=
ENST00000506853.5:n.119C=
ENST00000510955.5:n.119C=
ENST00000511231.1:n.119C=
NM_000027.3:c.85C= NP_000018.2:p.Leu29=
NM_001171988.1:c.85C= NP_001165459.1:p.Leu29=
NR_033655.1:n.213C=
XM_006714123.2:c.85C= XP_006714186.1:p.Leu29=
XR_001741155.2:n.179C=
NM_000027.4:c.85C= MANE Select NP_000018.2:p.Leu29=
NM_001171988.2:c.85C= NP_001165459.1:p.Leu29=
NR_033655.2:n.147C=