Canonical Allele Identifier: CA6355217
Community Standard Title: NM_014026.6(DCPS):c.1013G>A (p.Ter338=)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345612G>A , CM000673.2:g.126345612G>A GRCh38
NC_000011.9:g.126215507G>A , CM000673.1:g.126215507G>A GRCh37
NC_000011.8:g.125720717G>A NCBI36
NG_053153.1:g.47312G>A

Transcript Alleles

HGVS Amino-acid Change
NM_014026.6:c.1013G>A (DCPS) MANE Select NP_054745.1:p.Ter338=
ENST00000263579.5:c.1013G>A (DCPS) MANE Select ENSP00000263579.4:p.Ter338=
NM_001350236.1:c.1034G>A (DCPS) NP_001337165.1:p.Ter345=
NM_001350236.2:c.1034G>A (DCPS) NP_001337165.1:p.Ter345=
NM_014026.4:c.1013G>A (DCPS) NP_054745.1:p.Ter338=
NM_014026.5:c.1013G>A (DCPS) NP_054745.1:p.Ter338=
NR_033839.1:n.147-3290C>T (GSEC)
ENST00000263579.4:c.1013G>A (DCPS) ENSP00000263579.4:p.Ter338=
ENST00000529149.1:n.2363G>A (DCPS)
ENST00000530860.5:n.524G>A (DCPS)
ENST00000648516.1:c.734G>A (DCPS) ENSP00000497684.1:p.Ter245=
XM_011542778.1:c.1034G>A (DCPS) XP_011541080.1:p.Ter345=
XM_011542779.1:c.734G>A (DCPS) XP_011541081.1:p.Ter245=
XM_011542780.1:c.734G>A (DCPS) XP_011541082.1:p.Ter245=