Canonical Allele Identifier: CA383221223

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345512T>A , CM000673.2:g.126345512T>A GRCh38
NC_000011.9:g.126215407T>A , CM000673.1:g.126215407T>A GRCh37
NC_000011.8:g.125720617T>A NCBI36
NG_053153.1:g.47212T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.913T>A (DCPS) MANE Select ENSP00000263579.4:p.Leu305Met
ENST00000648516.1:c.634T>A (DCPS) ENSP00000497684.1:p.Leu212Met
ENST00000263579.4:c.913T>A (DCPS) ENSP00000263579.4:p.Leu305Met
ENST00000529149.1:n.2263T>A (DCPS)
ENST00000530860.5:n.424T>A (DCPS)
NM_014026.4:c.913T>A (DCPS) NP_054745.1:p.Leu305Met
NR_033839.1:n.147-3190A>T (GSEC)
XM_011542778.1:c.934T>A (DCPS) XP_011541080.1:p.Leu312Met
XM_011542779.1:c.634T>A (DCPS) XP_011541081.1:p.Leu212Met
XM_011542780.1:c.634T>A (DCPS) XP_011541082.1:p.Leu212Met
NM_001350236.1:c.934T>A (DCPS) NP_001337165.1:p.Leu312Met
NM_014026.5:c.913T>A (DCPS) NP_054745.1:p.Leu305Met
NM_014026.6:c.913T>A (DCPS) MANE Select NP_054745.1:p.Leu305Met
NM_001350236.2:c.934T>A (DCPS) NP_001337165.1:p.Leu312Met