Canonical Allele Identifier: CA1515643301
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438656C= , CM000666.2:g.177438656C= GRCh38
NC_000004.11:g.178359810C= , CM000666.1:g.178359810C= GRCh37
NC_000004.10:g.178596804C= NCBI36
NG_011845.2:g.8848G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.507+89G= MANE Select ENSP00000264595.2:n.507+89G=
ENST00000264595.6:c.507+89G= ENSP00000264595.2:n.507+89G=
ENST00000502310.5:c.162+89G= ENSP00000423798.1:n.162+89G=
ENST00000506853.5:n.541+89G=
ENST00000510635.1:c.203+89G=
ENST00000510955.5:n.428+89G=
NM_000027.3:c.507+89G= NP_000018.2:n.507+89G=
NM_001171988.1:c.507+89G= NP_001165459.1:n.507+89G=
NR_033655.1:n.635+89G=
XM_006714123.2:c.507+89G= XP_006714186.1:n.507+89G=
XR_001741155.2:n.601+89G=
NM_000027.4:c.507+89G= MANE Select NP_000018.2:n.507+89G=
NM_001171988.2:c.507+89G= NP_001165459.1:n.507+89G=
NR_033655.2:n.569+89G=