Canonical Allele Identifier: CA383221219

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345510A>G , CM000673.2:g.126345510A>G GRCh38
NC_000011.9:g.126215405A>G , CM000673.1:g.126215405A>G GRCh37
NC_000011.8:g.125720615A>G NCBI36
NG_053153.1:g.47210A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.911A>G (DCPS) MANE Select ENSP00000263579.4:p.Asn304Ser
ENST00000648516.1:c.632A>G (DCPS) ENSP00000497684.1:p.Asn211Ser
ENST00000263579.4:c.911A>G (DCPS) ENSP00000263579.4:p.Asn304Ser
ENST00000529149.1:n.2261A>G (DCPS)
ENST00000530860.5:n.422A>G (DCPS)
NM_014026.4:c.911A>G (DCPS) NP_054745.1:p.Asn304Ser
NR_033839.1:n.147-3188T>C (GSEC)
XM_011542778.1:c.932A>G (DCPS) XP_011541080.1:p.Asn311Ser
XM_011542779.1:c.632A>G (DCPS) XP_011541081.1:p.Asn211Ser
XM_011542780.1:c.632A>G (DCPS) XP_011541082.1:p.Asn211Ser
NM_001350236.1:c.932A>G (DCPS) NP_001337165.1:p.Asn311Ser
NM_014026.5:c.911A>G (DCPS) NP_054745.1:p.Asn304Ser
NM_014026.6:c.911A>G (DCPS) MANE Select NP_054745.1:p.Asn304Ser
NM_001350236.2:c.932A>G (DCPS) NP_001337165.1:p.Asn311Ser