Canonical Allele Identifier: CA1515637561
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434407C= , CM000666.2:g.177434407C= GRCh38
NC_000004.11:g.178355561C= , CM000666.1:g.178355561C= GRCh37
NC_000004.10:g.178592555C= NCBI36
NG_011845.2:g.13097G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.781G= MANE Select ENSP00000264595.2:p.Asp261=
ENST00000264595.6:c.781G= ENSP00000264595.2:p.Asp261=
ENST00000502310.5:c.352G= ENSP00000423798.1:p.Asp118=
ENST00000506853.5:n.739G=
NM_000027.3:c.781G= NP_000018.2:p.Asp261=
NM_001171988.1:c.751G= NP_001165459.1:p.Asp251=
NR_033655.1:n.833G=
XM_006714123.2:c.*75G= XP_006714186.1:n.*75G=
XR_001741155.2:n.853G=
NM_000027.4:c.781G= MANE Select NP_000018.2:p.Asp261=
NM_001171988.2:c.751G= NP_001165459.1:p.Asp251=
NR_033655.2:n.767G=