Canonical Allele Identifier: CA383221254

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345524C>G , CM000673.2:g.126345524C>G GRCh38
NC_000011.9:g.126215419C>G , CM000673.1:g.126215419C>G GRCh37
NC_000011.8:g.125720629C>G NCBI36
NG_053153.1:g.47224C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.925C>G (DCPS) MANE Select ENSP00000263579.4:p.Pro309Ala
ENST00000648516.1:c.646C>G (DCPS) ENSP00000497684.1:p.Pro216Ala
ENST00000263579.4:c.925C>G (DCPS) ENSP00000263579.4:p.Pro309Ala
ENST00000529149.1:n.2275C>G (DCPS)
ENST00000530860.5:n.436C>G (DCPS)
NM_014026.4:c.925C>G (DCPS) NP_054745.1:p.Pro309Ala
NR_033839.1:n.147-3202G>C (GSEC)
XM_011542778.1:c.946C>G (DCPS) XP_011541080.1:p.Pro316Ala
XM_011542779.1:c.646C>G (DCPS) XP_011541081.1:p.Pro216Ala
XM_011542780.1:c.646C>G (DCPS) XP_011541082.1:p.Pro216Ala
NM_001350236.1:c.946C>G (DCPS) NP_001337165.1:p.Pro316Ala
NM_014026.5:c.925C>G (DCPS) NP_054745.1:p.Pro309Ala
NM_014026.6:c.925C>G (DCPS) MANE Select NP_054745.1:p.Pro309Ala
NM_001350236.2:c.946C>G (DCPS) NP_001337165.1:p.Pro316Ala