Canonical Allele Identifier: CA1515643415
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177438743A= , CM000666.2:g.177438743A= GRCh38
NC_000004.11:g.178359897A= , CM000666.1:g.178359897A= GRCh37
NC_000004.10:g.178596891A= NCBI36
NG_011845.2:g.8761T=

Transcript Alleles

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