Canonical Allele Identifier: CA1515637562
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434408A= , CM000666.2:g.177434408A= GRCh38
NC_000004.11:g.178355562A= , CM000666.1:g.178355562A= GRCh37
NC_000004.10:g.178592556A= NCBI36
NG_011845.2:g.13096T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.780T= MANE Select ENSP00000264595.2:p.Gly260=
ENST00000264595.6:c.780T= ENSP00000264595.2:p.Gly260=
ENST00000502310.5:c.351T= ENSP00000423798.1:p.Gly117=
ENST00000506853.5:n.738T=
NM_000027.3:c.780T= NP_000018.2:p.Gly260=
NM_001171988.1:c.750T= NP_001165459.1:p.Gly250=
NR_033655.1:n.832T=
XM_006714123.2:c.*74T= XP_006714186.1:n.*74T=
XR_001741155.2:n.852T=
NM_000027.4:c.780T= MANE Select NP_000018.2:p.Gly260=
NM_001171988.2:c.750T= NP_001165459.1:p.Gly250=
NR_033655.2:n.766T=