Canonical Allele Identifier: CA1515637545
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177434401A= , CM000666.2:g.177434401A= GRCh38
NC_000004.11:g.178355555A= , CM000666.1:g.178355555A= GRCh37
NC_000004.10:g.178592549A= NCBI36
NG_011845.2:g.13103T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.787T= MANE Select ENSP00000264595.2:p.Leu263=
ENST00000264595.6:c.787T= ENSP00000264595.2:p.Leu263=
ENST00000502310.5:c.358T= ENSP00000423798.1:p.Leu120=
ENST00000506853.5:n.745T=
NM_000027.3:c.787T= NP_000018.2:p.Leu263=
NM_001171988.1:c.757T= NP_001165459.1:p.Leu253=
NR_033655.1:n.839T=
XM_006714123.2:c.*81T= XP_006714186.1:n.*81T=
XR_001741155.2:n.859T=
NM_000027.4:c.787T= MANE Select NP_000018.2:p.Leu263=
NM_001171988.2:c.757T= NP_001165459.1:p.Leu253=
NR_033655.2:n.773T=