Canonical Allele Identifier: CA1515643452
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438764C= , CM000666.2:g.177438764C= GRCh38
NC_000004.11:g.178359918C= , CM000666.1:g.178359918C= GRCh37
NC_000004.10:g.178596912C= NCBI36
NG_011845.2:g.8740G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.488G= MANE Select ENSP00000264595.2:p.Cys163=
ENST00000264595.6:c.488G= ENSP00000264595.2:p.Cys163=
ENST00000502310.5:c.143G= ENSP00000423798.1:p.Cys48=
ENST00000506853.5:n.522G=
ENST00000510635.1:c.184G=
ENST00000510955.5:n.409G=
NM_000027.3:c.488G= NP_000018.2:p.Cys163=
NM_001171988.1:c.488G= NP_001165459.1:p.Cys163=
NR_033655.1:n.616G=
XM_006714123.2:c.488G= XP_006714186.1:p.Cys163=
XR_001741155.2:n.582G=
NM_000027.4:c.488G= MANE Select NP_000018.2:p.Cys163=
NM_001171988.2:c.488G= NP_001165459.1:p.Cys163=
NR_033655.2:n.550G=