Canonical Allele Identifier: CA477512299

Linked Data

dbSNP Id: rs1215363009

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345517G>A , CM000673.2:g.126345517G>A GRCh38
NC_000011.9:g.126215412G>A , CM000673.1:g.126215412G>A GRCh37
NC_000011.8:g.125720622G>A NCBI36
NG_053153.1:g.47217G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.918G>A (DCPS) MANE Select ENSP00000263579.4:p.Glu306=
ENST00000648516.1:c.639G>A (DCPS) ENSP00000497684.1:p.Glu213=
ENST00000263579.4:c.918G>A (DCPS) ENSP00000263579.4:p.Glu306=
ENST00000529149.1:n.2268G>A (DCPS)
ENST00000530860.5:n.429G>A (DCPS)
NM_014026.4:c.918G>A (DCPS) NP_054745.1:p.Glu306=
NR_033839.1:n.147-3195C>T (GSEC)
XM_011542778.1:c.939G>A (DCPS) XP_011541080.1:p.Glu313=
XM_011542779.1:c.639G>A (DCPS) XP_011541081.1:p.Glu213=
XM_011542780.1:c.639G>A (DCPS) XP_011541082.1:p.Glu213=
NM_001350236.1:c.939G>A (DCPS) NP_001337165.1:p.Glu313=
NM_014026.5:c.918G>A (DCPS) NP_054745.1:p.Glu306=
NM_014026.6:c.918G>A (DCPS) MANE Select NP_054745.1:p.Glu306=
NM_001350236.2:c.939G>A (DCPS) NP_001337165.1:p.Glu313=