Canonical Allele Identifier: CA2007047250

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000263579.5:c.940C= (DCPS) MANE Select ENSP00000263579.4:p.Gln314=
ENST00000648516.1:c.661C= (DCPS) ENSP00000497684.1:p.Gln221=
ENST00000263579.4:c.940C= (DCPS) ENSP00000263579.4:p.Gln314=
ENST00000529149.1:n.2290C= (DCPS)
ENST00000530860.5:n.451C= (DCPS)
NM_014026.4:c.940C= (DCPS) NP_054745.1:p.Gln314=
NR_033839.1:n.147-3217G= (GSEC)
XM_011542778.1:c.961C= (DCPS) XP_011541080.1:p.Gln321=
XM_011542779.1:c.661C= (DCPS) XP_011541081.1:p.Gln221=
XM_011542780.1:c.661C= (DCPS) XP_011541082.1:p.Gln221=
NM_001350236.1:c.961C= (DCPS) NP_001337165.1:p.Gln321=
NM_014026.5:c.940C= (DCPS) NP_054745.1:p.Gln314=
NM_014026.6:c.940C= (DCPS) MANE Select NP_054745.1:p.Gln314=
NM_001350236.2:c.961C= (DCPS) NP_001337165.1:p.Gln321=