Canonical Allele Identifier: CA1515643582
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438827A= , CM000666.2:g.177438827A= GRCh38
NC_000004.11:g.178359981A= , CM000666.1:g.178359981A= GRCh37
NC_000004.10:g.178596975A= NCBI36
NG_011845.2:g.8677T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.425T= MANE Select ENSP00000264595.2:p.Ile142=
ENST00000264595.6:c.425T= ENSP00000264595.2:p.Ile142=
ENST00000502310.5:c.80T= ENSP00000423798.1:p.Ile27=
ENST00000506853.5:n.459T=
ENST00000510635.1:c.121T=
ENST00000510955.5:n.346T=
NM_000027.3:c.425T= NP_000018.2:p.Ile142=
NM_001171988.1:c.425T= NP_001165459.1:p.Ile142=
NR_033655.1:n.553T=
XM_006714123.2:c.425T= XP_006714186.1:p.Ile142=
XR_001741155.2:n.519T=
NM_000027.4:c.425T= MANE Select NP_000018.2:p.Ile142=
NM_001171988.2:c.425T= NP_001165459.1:p.Ile142=
NR_033655.2:n.487T=