Canonical Allele Identifier: CA1515642146
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437614A= , CM000666.2:g.177437614A= GRCh38
NC_000004.11:g.178358768A= , CM000666.1:g.178358768A= GRCh37
NC_000004.10:g.178595762A= NCBI36
NG_011845.2:g.9890T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-95T= MANE Select ENSP00000264595.2:n.508-95T=
ENST00000264595.6:c.508-95T= ENSP00000264595.2:n.508-95T=
ENST00000502310.5:c.163-95T= ENSP00000423798.1:n.163-95T=
ENST00000506853.5:n.542-95T=
ENST00000510635.1:c.204-95T=
ENST00000510955.5:n.429-95T=
NM_000027.3:c.508-95T= NP_000018.2:n.508-95T=
NM_001171988.1:c.508-95T= NP_001165459.1:n.508-95T=
NR_033655.1:n.636-95T=
XM_006714123.2:c.508-95T= XP_006714186.1:n.508-95T=
XR_001741155.2:n.602-95T=
NM_000027.4:c.508-95T= MANE Select NP_000018.2:n.508-95T=
NM_001171988.2:c.508-95T= NP_001165459.1:n.508-95T=
NR_033655.2:n.570-95T=