Canonical Allele Identifier: CA383221222

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345511C>G , CM000673.2:g.126345511C>G GRCh38
NC_000011.9:g.126215406C>G , CM000673.1:g.126215406C>G GRCh37
NC_000011.8:g.125720616C>G NCBI36
NG_053153.1:g.47211C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.912C>G (DCPS) MANE Select ENSP00000263579.4:p.Asn304Lys
ENST00000648516.1:c.633C>G (DCPS) ENSP00000497684.1:p.Asn211Lys
ENST00000263579.4:c.912C>G (DCPS) ENSP00000263579.4:p.Asn304Lys
ENST00000529149.1:n.2262C>G (DCPS)
ENST00000530860.5:n.423C>G (DCPS)
NM_014026.4:c.912C>G (DCPS) NP_054745.1:p.Asn304Lys
NR_033839.1:n.147-3189G>C (GSEC)
XM_011542778.1:c.933C>G (DCPS) XP_011541080.1:p.Asn311Lys
XM_011542779.1:c.633C>G (DCPS) XP_011541081.1:p.Asn211Lys
XM_011542780.1:c.633C>G (DCPS) XP_011541082.1:p.Asn211Lys
NM_001350236.1:c.933C>G (DCPS) NP_001337165.1:p.Asn311Lys
NM_014026.5:c.912C>G (DCPS) NP_054745.1:p.Asn304Lys
NM_014026.6:c.912C>G (DCPS) MANE Select NP_054745.1:p.Asn304Lys
NM_001350236.2:c.933C>G (DCPS) NP_001337165.1:p.Asn311Lys