Canonical Allele Identifier: CA477512300

Linked Data

MyVariant Identifiers: chr11:g.126215415T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345520T>C , CM000673.2:g.126345520T>C GRCh38
NC_000011.9:g.126215415T>C , CM000673.1:g.126215415T>C GRCh37
NC_000011.8:g.125720625T>C NCBI36
NG_053153.1:g.47220T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.921T>C (DCPS) MANE Select ENSP00000263579.4:p.Cys307=
ENST00000648516.1:c.642T>C (DCPS) ENSP00000497684.1:p.Cys214=
ENST00000263579.4:c.921T>C (DCPS) ENSP00000263579.4:p.Cys307=
ENST00000529149.1:n.2271T>C (DCPS)
ENST00000530860.5:n.432T>C (DCPS)
NM_014026.4:c.921T>C (DCPS) NP_054745.1:p.Cys307=
NR_033839.1:n.147-3198A>G (GSEC)
XM_011542778.1:c.942T>C (DCPS) XP_011541080.1:p.Cys314=
XM_011542779.1:c.642T>C (DCPS) XP_011541081.1:p.Cys214=
XM_011542780.1:c.642T>C (DCPS) XP_011541082.1:p.Cys214=
NM_001350236.1:c.942T>C (DCPS) NP_001337165.1:p.Cys314=
NM_014026.5:c.921T>C (DCPS) NP_054745.1:p.Cys307=
NM_014026.6:c.921T>C (DCPS) MANE Select NP_054745.1:p.Cys307=
NM_001350236.2:c.942T>C (DCPS) NP_001337165.1:p.Cys314=