Canonical Allele Identifier: CA1515637717
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434468T= , CM000666.2:g.177434468T= GRCh38
NC_000004.11:g.178355622T= , CM000666.1:g.178355622T= GRCh37
NC_000004.10:g.178592616T= NCBI36
NG_011845.2:g.13036A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.720A= MANE Select ENSP00000264595.2:p.Ile240=
ENST00000264595.6:c.720A= ENSP00000264595.2:p.Ile240=
ENST00000502310.5:c.291A= ENSP00000423798.1:p.Ile97=
ENST00000506853.5:n.678A=
ENST00000510635.1:c.386A=
NM_000027.3:c.720A= NP_000018.2:p.Ile240=
NM_001171988.1:c.690A= NP_001165459.1:p.Ile230=
NR_033655.1:n.772A=
XM_006714123.2:c.*14A= XP_006714186.1:n.*14A=
XR_001741155.2:n.792A=
NM_000027.4:c.720A= MANE Select NP_000018.2:p.Ile240=
NM_001171988.2:c.690A= NP_001165459.1:p.Ile230=
NR_033655.2:n.706A=