Canonical Allele Identifier: CA1515637692
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434450A= , CM000666.2:g.177434450A= GRCh38
NC_000004.11:g.178355604A= , CM000666.1:g.178355604A= GRCh37
NC_000004.10:g.178592598A= NCBI36
NG_011845.2:g.13054T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.738T= MANE Select ENSP00000264595.2:p.Tyr246=
ENST00000264595.6:c.738T= ENSP00000264595.2:p.Tyr246=
ENST00000502310.5:c.309T= ENSP00000423798.1:p.Tyr103=
ENST00000506853.5:n.696T=
ENST00000510635.1:c.404T=
NM_000027.3:c.738T= NP_000018.2:p.Tyr246=
NM_001171988.1:c.708T= NP_001165459.1:p.Tyr236=
NR_033655.1:n.790T=
XM_006714123.2:c.*32T= XP_006714186.1:n.*32T=
XR_001741155.2:n.810T=
NM_000027.4:c.738T= MANE Select NP_000018.2:p.Tyr246=
NM_001171988.2:c.708T= NP_001165459.1:p.Tyr236=
NR_033655.2:n.724T=