Canonical Allele Identifier: CA1515642240
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177437692A= , CM000666.2:g.177437692A= GRCh38
NC_000004.11:g.178358846A= , CM000666.1:g.178358846A= GRCh37
NC_000004.10:g.178595840A= NCBI36
NG_011845.2:g.9812T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.508-173T= MANE Select ENSP00000264595.2:n.508-173T=
ENST00000264595.6:c.508-173T= ENSP00000264595.2:n.508-173T=
ENST00000502310.5:c.163-173T= ENSP00000423798.1:n.163-173T=
ENST00000506853.5:n.542-173T=
ENST00000510635.1:c.204-173T=
ENST00000510955.5:n.429-173T=
NM_000027.3:c.508-173T= NP_000018.2:n.508-173T=
NM_001171988.1:c.508-173T= NP_001165459.1:n.508-173T=
NR_033655.1:n.636-173T=
XM_006714123.2:c.508-173T= XP_006714186.1:n.508-173T=
XR_001741155.2:n.602-173T=
NM_000027.4:c.508-173T= MANE Select NP_000018.2:n.508-173T=
NM_001171988.2:c.508-173T= NP_001165459.1:n.508-173T=
NR_033655.2:n.570-173T=