Canonical Allele Identifier: CA383221242

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345519G>T , CM000673.2:g.126345519G>T GRCh38
NC_000011.9:g.126215414G>T , CM000673.1:g.126215414G>T GRCh37
NC_000011.8:g.125720624G>T NCBI36
NG_053153.1:g.47219G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.920G>T (DCPS) MANE Select ENSP00000263579.4:p.Cys307Phe
ENST00000648516.1:c.641G>T (DCPS) ENSP00000497684.1:p.Cys214Phe
ENST00000263579.4:c.920G>T (DCPS) ENSP00000263579.4:p.Cys307Phe
ENST00000529149.1:n.2270G>T (DCPS)
ENST00000530860.5:n.431G>T (DCPS)
NM_014026.4:c.920G>T (DCPS) NP_054745.1:p.Cys307Phe
NR_033839.1:n.147-3197C>A (GSEC)
XM_011542778.1:c.941G>T (DCPS) XP_011541080.1:p.Cys314Phe
XM_011542779.1:c.641G>T (DCPS) XP_011541081.1:p.Cys214Phe
XM_011542780.1:c.641G>T (DCPS) XP_011541082.1:p.Cys214Phe
NM_001350236.1:c.941G>T (DCPS) NP_001337165.1:p.Cys314Phe
NM_014026.5:c.920G>T (DCPS) NP_054745.1:p.Cys307Phe
NM_014026.6:c.920G>T (DCPS) MANE Select NP_054745.1:p.Cys307Phe
NM_001350236.2:c.941G>T (DCPS) NP_001337165.1:p.Cys314Phe