Canonical Allele Identifier: CA383221288

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.126345539C>A , CM000673.2:g.126345539C>A GRCh38
NC_000011.9:g.126215434C>A , CM000673.1:g.126215434C>A GRCh37
NC_000011.8:g.125720644C>A NCBI36
NG_053153.1:g.47239C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.940C>A (DCPS) MANE Select ENSP00000263579.4:p.Gln314Lys
ENST00000648516.1:c.661C>A (DCPS) ENSP00000497684.1:p.Gln221Lys
ENST00000263579.4:c.940C>A (DCPS) ENSP00000263579.4:p.Gln314Lys
ENST00000529149.1:n.2290C>A (DCPS)
ENST00000530860.5:n.451C>A (DCPS)
NM_014026.4:c.940C>A (DCPS) NP_054745.1:p.Gln314Lys
NR_033839.1:n.147-3217G>T (GSEC)
XM_011542778.1:c.961C>A (DCPS) XP_011541080.1:p.Gln321Lys
XM_011542779.1:c.661C>A (DCPS) XP_011541081.1:p.Gln221Lys
XM_011542780.1:c.661C>A (DCPS) XP_011541082.1:p.Gln221Lys
NM_001350236.1:c.961C>A (DCPS) NP_001337165.1:p.Gln321Lys
NM_014026.5:c.940C>A (DCPS) NP_054745.1:p.Gln314Lys
NM_014026.6:c.940C>A (DCPS) MANE Select NP_054745.1:p.Gln314Lys
NM_001350236.2:c.961C>A (DCPS) NP_001337165.1:p.Gln321Lys