Canonical Allele Identifier: CA1515642130
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437594T= , CM000666.2:g.177437594T= GRCh38
NC_000004.11:g.178358748T= , CM000666.1:g.178358748T= GRCh37
NC_000004.10:g.178595742T= NCBI36
NG_011845.2:g.9910A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-75A= MANE Select ENSP00000264595.2:n.508-75A=
ENST00000264595.6:c.508-75A= ENSP00000264595.2:n.508-75A=
ENST00000502310.5:c.163-75A= ENSP00000423798.1:n.163-75A=
ENST00000506853.5:n.542-75A=
ENST00000510635.1:c.204-75A=
ENST00000510955.5:n.429-75A=
NM_000027.3:c.508-75A= NP_000018.2:n.508-75A=
NM_001171988.1:c.508-75A= NP_001165459.1:n.508-75A=
NR_033655.1:n.636-75A=
XM_006714123.2:c.508-75A= XP_006714186.1:n.508-75A=
XR_001741155.2:n.602-75A=
NM_000027.4:c.508-75A= MANE Select NP_000018.2:n.508-75A=
NM_001171988.2:c.508-75A= NP_001165459.1:n.508-75A=
NR_033655.2:n.570-75A=