Canonical Allele Identifier: CA358783599
Gene: AGA HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.177439612C>G , CM000666.2:g.177439612C>G GRCh38
NC_000004.11:g.178360766C>G , CM000666.1:g.178360766C>G GRCh37
NC_000004.10:g.178597760C>G NCBI36
NG_011845.2:g.7892G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264595.7:c.358G>C MANE Select ENSP00000264595.2:p.Glu120Gln
ENST00000264595.6:c.358G>C ENSP00000264595.2:p.Glu120Gln
ENST00000502310.5:c.13G>C ENSP00000423798.1:p.Glu5Gln
ENST00000506853.5:n.392G>C
ENST00000510635.1:c.54G>C
ENST00000510955.5:n.315+661G>C
NM_000027.3:c.358G>C NP_000018.2:p.Glu120Gln
NM_001171988.1:c.358G>C NP_001165459.1:p.Glu120Gln
NR_033655.1:n.486G>C
XM_006714123.2:c.358G>C XP_006714186.1:p.Glu120Gln
XR_001741155.2:n.452G>C
NM_000027.4:c.358G>C MANE Select NP_000018.2:p.Glu120Gln
NM_001171988.2:c.358G>C NP_001165459.1:p.Glu120Gln
NR_033655.2:n.420G>C