Canonical Allele Identifier: CA383221397

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345594A>C , CM000673.2:g.126345594A>C GRCh38
NC_000011.9:g.126215489A>C , CM000673.1:g.126215489A>C GRCh37
NC_000011.8:g.125720699A>C NCBI36
NG_053153.1:g.47294A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.995A>C (DCPS) MANE Select ENSP00000263579.4:p.Gln332Pro
ENST00000648516.1:c.716A>C (DCPS) ENSP00000497684.1:p.Gln239Pro
ENST00000263579.4:c.995A>C (DCPS) ENSP00000263579.4:p.Gln332Pro
ENST00000529149.1:n.2345A>C (DCPS)
ENST00000530860.5:n.506A>C (DCPS)
NM_014026.4:c.995A>C (DCPS) NP_054745.1:p.Gln332Pro
NR_033839.1:n.147-3272T>G (GSEC)
XM_011542778.1:c.1016A>C (DCPS) XP_011541080.1:p.Gln339Pro
XM_011542779.1:c.716A>C (DCPS) XP_011541081.1:p.Gln239Pro
XM_011542780.1:c.716A>C (DCPS) XP_011541082.1:p.Gln239Pro
NM_001350236.1:c.1016A>C (DCPS) NP_001337165.1:p.Gln339Pro
NM_014026.5:c.995A>C (DCPS) NP_054745.1:p.Gln332Pro
NM_014026.6:c.995A>C (DCPS) MANE Select NP_054745.1:p.Gln332Pro
NM_001350236.2:c.1016A>C (DCPS) NP_001337165.1:p.Gln339Pro