Canonical Allele Identifier: CA383221299

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345545A>G , CM000673.2:g.126345545A>G GRCh38
NC_000011.9:g.126215440A>G , CM000673.1:g.126215440A>G GRCh37
NC_000011.8:g.125720650A>G NCBI36
NG_053153.1:g.47245A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.946A>G (DCPS) MANE Select ENSP00000263579.4:p.Thr316Ala
ENST00000648516.1:c.667A>G (DCPS) ENSP00000497684.1:p.Thr223Ala
ENST00000263579.4:c.946A>G (DCPS) ENSP00000263579.4:p.Thr316Ala
ENST00000529149.1:n.2296A>G (DCPS)
ENST00000530860.5:n.457A>G (DCPS)
NM_014026.4:c.946A>G (DCPS) NP_054745.1:p.Thr316Ala
NR_033839.1:n.147-3223T>C (GSEC)
XM_011542778.1:c.967A>G (DCPS) XP_011541080.1:p.Thr323Ala
XM_011542779.1:c.667A>G (DCPS) XP_011541081.1:p.Thr223Ala
XM_011542780.1:c.667A>G (DCPS) XP_011541082.1:p.Thr223Ala
NM_001350236.1:c.967A>G (DCPS) NP_001337165.1:p.Thr323Ala
NM_014026.5:c.946A>G (DCPS) NP_054745.1:p.Thr316Ala
NM_014026.6:c.946A>G (DCPS) MANE Select NP_054745.1:p.Thr316Ala
NM_001350236.2:c.967A>G (DCPS) NP_001337165.1:p.Thr323Ala