Canonical Allele Identifier: CA383221275

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345534A>C , CM000673.2:g.126345534A>C GRCh38
NC_000011.9:g.126215429A>C , CM000673.1:g.126215429A>C GRCh37
NC_000011.8:g.125720639A>C NCBI36
NG_053153.1:g.47234A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.935A>C (DCPS) MANE Select ENSP00000263579.4:p.Tyr312Ser
ENST00000648516.1:c.656A>C (DCPS) ENSP00000497684.1:p.Tyr219Ser
ENST00000263579.4:c.935A>C (DCPS) ENSP00000263579.4:p.Tyr312Ser
ENST00000529149.1:n.2285A>C (DCPS)
ENST00000530860.5:n.446A>C (DCPS)
NM_014026.4:c.935A>C (DCPS) NP_054745.1:p.Tyr312Ser
NR_033839.1:n.147-3212T>G (GSEC)
XM_011542778.1:c.956A>C (DCPS) XP_011541080.1:p.Tyr319Ser
XM_011542779.1:c.656A>C (DCPS) XP_011541081.1:p.Tyr219Ser
XM_011542780.1:c.656A>C (DCPS) XP_011541082.1:p.Tyr219Ser
NM_001350236.1:c.956A>C (DCPS) NP_001337165.1:p.Tyr319Ser
NM_014026.5:c.935A>C (DCPS) NP_054745.1:p.Tyr312Ser
NM_014026.6:c.935A>C (DCPS) MANE Select NP_054745.1:p.Tyr312Ser
NM_001350236.2:c.956A>C (DCPS) NP_001337165.1:p.Tyr319Ser