Canonical Allele Identifier: CA383221252

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345523C>G , CM000673.2:g.126345523C>G GRCh38
NC_000011.9:g.126215418C>G , CM000673.1:g.126215418C>G GRCh37
NC_000011.8:g.125720628C>G NCBI36
NG_053153.1:g.47223C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.924C>G (DCPS) MANE Select ENSP00000263579.4:p.Asp308Glu
ENST00000648516.1:c.645C>G (DCPS) ENSP00000497684.1:p.Asp215Glu
ENST00000263579.4:c.924C>G (DCPS) ENSP00000263579.4:p.Asp308Glu
ENST00000529149.1:n.2274C>G (DCPS)
ENST00000530860.5:n.435C>G (DCPS)
NM_014026.4:c.924C>G (DCPS) NP_054745.1:p.Asp308Glu
NR_033839.1:n.147-3201G>C (GSEC)
XM_011542778.1:c.945C>G (DCPS) XP_011541080.1:p.Asp315Glu
XM_011542779.1:c.645C>G (DCPS) XP_011541081.1:p.Asp215Glu
XM_011542780.1:c.645C>G (DCPS) XP_011541082.1:p.Asp215Glu
NM_001350236.1:c.945C>G (DCPS) NP_001337165.1:p.Asp315Glu
NM_014026.5:c.924C>G (DCPS) NP_054745.1:p.Asp308Glu
NM_014026.6:c.924C>G (DCPS) MANE Select NP_054745.1:p.Asp308Glu
NM_001350236.2:c.945C>G (DCPS) NP_001337165.1:p.Asp315Glu