Canonical Allele Identifier: CA2616730290

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345637G>T , CM000673.2:g.126345637G>T GRCh38
NC_000011.9:g.126215532G>T , CM000673.1:g.126215532G>T GRCh37
NC_000011.8:g.125720742G>T NCBI36
NG_053153.1:g.47337G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.*24G>T (DCPS) MANE Select ENSP00000263579.4:n.*24G>T
ENST00000648516.1:c.*24G>T (DCPS) ENSP00000497684.1:n.*24G>T
ENST00000263579.4:c.*24G>T (DCPS) ENSP00000263579.4:n.*24G>T
ENST00000529149.1:n.2388G>T (DCPS)
ENST00000530860.5:n.549G>T (DCPS)
NM_014026.4:c.*24G>T (DCPS) NP_054745.1:n.*24G>T
NR_033839.1:n.147-3315C>A (GSEC)
XM_011542778.1:c.*24G>T (DCPS) XP_011541080.1:n.*24G>T
XM_011542779.1:c.*24G>T (DCPS) XP_011541081.1:n.*24G>T
XM_011542780.1:c.*24G>T (DCPS) XP_011541082.1:n.*24G>T
NM_001350236.1:c.*24G>T (DCPS) NP_001337165.1:n.*24G>T
NM_014026.5:c.*24G>T (DCPS) NP_054745.1:n.*24G>T
NM_014026.6:c.*24G>T (DCPS) MANE Select NP_054745.1:n.*24G>T
NM_001350236.2:c.*24G>T (DCPS) NP_001337165.1:n.*24G>T