Canonical Allele Identifier: CA383221391

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345591T>A , CM000673.2:g.126345591T>A GRCh38
NC_000011.9:g.126215486T>A , CM000673.1:g.126215486T>A GRCh37
NC_000011.8:g.125720696T>A NCBI36
NG_053153.1:g.47291T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.992T>A (DCPS) MANE Select ENSP00000263579.4:p.Leu331Ter
ENST00000648516.1:c.713T>A (DCPS) ENSP00000497684.1:p.Leu238Ter
ENST00000263579.4:c.992T>A (DCPS) ENSP00000263579.4:p.Leu331Ter
ENST00000529149.1:n.2342T>A (DCPS)
ENST00000530860.5:n.503T>A (DCPS)
NM_014026.4:c.992T>A (DCPS) NP_054745.1:p.Leu331Ter
NR_033839.1:n.147-3269A>T (GSEC)
XM_011542778.1:c.1013T>A (DCPS) XP_011541080.1:p.Leu338Ter
XM_011542779.1:c.713T>A (DCPS) XP_011541081.1:p.Leu238Ter
XM_011542780.1:c.713T>A (DCPS) XP_011541082.1:p.Leu238Ter
NM_001350236.1:c.1013T>A (DCPS) NP_001337165.1:p.Leu338Ter
NM_014026.5:c.992T>A (DCPS) NP_054745.1:p.Leu331Ter
NM_014026.6:c.992T>A (DCPS) MANE Select NP_054745.1:p.Leu331Ter
NM_001350236.2:c.1013T>A (DCPS) NP_001337165.1:p.Leu338Ter