Canonical Allele Identifier: CA1515644650
Gene: AGA HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439590A= , CM000666.2:g.177439590A= GRCh38
NC_000004.11:g.178360744A= , CM000666.1:g.178360744A= GRCh37
NC_000004.10:g.178597738A= NCBI36
NG_011845.2:g.7914T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.380T= MANE Select ENSP00000264595.2:p.Leu127=
ENST00000264595.6:c.380T= ENSP00000264595.2:p.Leu127=
ENST00000502310.5:c.35T= ENSP00000423798.1:p.Leu12=
ENST00000506853.5:n.414T=
ENST00000510635.1:c.76T=
ENST00000510955.5:n.315+683T=
NM_000027.3:c.380T= NP_000018.2:p.Leu127=
NM_001171988.1:c.380T= NP_001165459.1:p.Leu127=
NR_033655.1:n.508T=
XM_006714123.2:c.380T= XP_006714186.1:p.Leu127=
XR_001741155.2:n.474T=
NM_000027.4:c.380T= MANE Select NP_000018.2:p.Leu127=
NM_001171988.2:c.380T= NP_001165459.1:p.Leu127=
NR_033655.2:n.442T=