Canonical Allele Identifier: CA383221261

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345528G>A , CM000673.2:g.126345528G>A GRCh38
NC_000011.9:g.126215423G>A , CM000673.1:g.126215423G>A GRCh37
NC_000011.8:g.125720633G>A NCBI36
NG_053153.1:g.47228G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.929G>A (DCPS) MANE Select ENSP00000263579.4:p.Arg310Lys
ENST00000648516.1:c.650G>A (DCPS) ENSP00000497684.1:p.Arg217Lys
ENST00000263579.4:c.929G>A (DCPS) ENSP00000263579.4:p.Arg310Lys
ENST00000529149.1:n.2279G>A (DCPS)
ENST00000530860.5:n.440G>A (DCPS)
NM_014026.4:c.929G>A (DCPS) NP_054745.1:p.Arg310Lys
NR_033839.1:n.147-3206C>T (GSEC)
XM_011542778.1:c.950G>A (DCPS) XP_011541080.1:p.Arg317Lys
XM_011542779.1:c.650G>A (DCPS) XP_011541081.1:p.Arg217Lys
XM_011542780.1:c.650G>A (DCPS) XP_011541082.1:p.Arg217Lys
NM_001350236.1:c.950G>A (DCPS) NP_001337165.1:p.Arg317Lys
NM_014026.5:c.929G>A (DCPS) NP_054745.1:p.Arg310Lys
NM_014026.6:c.929G>A (DCPS) MANE Select NP_054745.1:p.Arg310Lys
NM_001350236.2:c.950G>A (DCPS) NP_001337165.1:p.Arg317Lys