Canonical Allele Identifier: CA602585572

Linked Data

dbSNP Id: rs1310105414

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345621C>T , CM000673.2:g.126345621C>T GRCh38
NC_000011.9:g.126215516C>T , CM000673.1:g.126215516C>T GRCh37
NC_000011.8:g.125720726C>T NCBI36
NG_053153.1:g.47321C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.*8C>T (DCPS) MANE Select ENSP00000263579.4:n.*8C>T
ENST00000648516.1:c.*8C>T (DCPS) ENSP00000497684.1:n.*8C>T
ENST00000263579.4:c.*8C>T (DCPS) ENSP00000263579.4:n.*8C>T
ENST00000529149.1:n.2372C>T (DCPS)
ENST00000530860.5:n.533C>T (DCPS)
NM_014026.4:c.*8C>T (DCPS) NP_054745.1:n.*8C>T
NR_033839.1:n.147-3299G>A (GSEC)
XM_011542778.1:c.*8C>T (DCPS) XP_011541080.1:n.*8C>T
XM_011542779.1:c.*8C>T (DCPS) XP_011541081.1:n.*8C>T
XM_011542780.1:c.*8C>T (DCPS) XP_011541082.1:n.*8C>T
NM_001350236.1:c.*8C>T (DCPS) NP_001337165.1:n.*8C>T
NM_014026.5:c.*8C>T (DCPS) NP_054745.1:n.*8C>T
NM_014026.6:c.*8C>T (DCPS) MANE Select NP_054745.1:n.*8C>T
NM_001350236.2:c.*8C>T (DCPS) NP_001337165.1:n.*8C>T