Canonical Allele Identifier: CA383221239

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345518T>G , CM000673.2:g.126345518T>G GRCh38
NC_000011.9:g.126215413T>G , CM000673.1:g.126215413T>G GRCh37
NC_000011.8:g.125720623T>G NCBI36
NG_053153.1:g.47218T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.919T>G (DCPS) MANE Select ENSP00000263579.4:p.Cys307Gly
ENST00000648516.1:c.640T>G (DCPS) ENSP00000497684.1:p.Cys214Gly
ENST00000263579.4:c.919T>G (DCPS) ENSP00000263579.4:p.Cys307Gly
ENST00000529149.1:n.2269T>G (DCPS)
ENST00000530860.5:n.430T>G (DCPS)
NM_014026.4:c.919T>G (DCPS) NP_054745.1:p.Cys307Gly
NR_033839.1:n.147-3196A>C (GSEC)
XM_011542778.1:c.940T>G (DCPS) XP_011541080.1:p.Cys314Gly
XM_011542779.1:c.640T>G (DCPS) XP_011541081.1:p.Cys214Gly
XM_011542780.1:c.640T>G (DCPS) XP_011541082.1:p.Cys214Gly
NM_001350236.1:c.940T>G (DCPS) NP_001337165.1:p.Cys314Gly
NM_014026.5:c.919T>G (DCPS) NP_054745.1:p.Cys307Gly
NM_014026.6:c.919T>G (DCPS) MANE Select NP_054745.1:p.Cys307Gly
NM_001350236.2:c.940T>G (DCPS) NP_001337165.1:p.Cys314Gly