Canonical Allele Identifier: CA1515641950
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437492A= , CM000666.2:g.177437492A= GRCh38
NC_000004.11:g.178358646A= , CM000666.1:g.178358646A= GRCh37
NC_000004.10:g.178595640A= NCBI36
NG_011845.2:g.10012T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.535T= MANE Select ENSP00000264595.2:p.Cys179=
ENST00000264595.6:c.535T= ENSP00000264595.2:p.Cys179=
ENST00000502310.5:c.190T= ENSP00000423798.1:p.Cys64=
ENST00000506853.5:n.569T=
ENST00000510635.1:c.231T=
ENST00000510955.5:n.456T=
NM_000027.3:c.535T= NP_000018.2:p.Cys179=
NM_001171988.1:c.535T= NP_001165459.1:p.Cys179=
NR_033655.1:n.663T=
XM_006714123.2:c.535T= XP_006714186.1:p.Cys179=
XR_001741155.2:n.629T=
NM_000027.4:c.535T= MANE Select NP_000018.2:p.Cys179=
NM_001171988.2:c.535T= NP_001165459.1:p.Cys179=
NR_033655.2:n.597T=