Canonical Allele Identifier: CA383221209

Gene: DCPS GSEC

Linked Data

• dbSNP Id: rs781480975
• gnomAD v2: 11-126215401-G-A
• gnomAD v3: 11-126345506-G-A
• gnomAD v4: 11-126345506-G-A
• MyVariant Identifiers: chr11:g.126215401G>A (hg19) ; chr11:g.126345506G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126345506G>A , CM000673.2:g.126345506G>A	GRCh38
NC_000011.9:g.126215401G>A , CM000673.1:g.126215401G>A	GRCh37
NC_000011.8:g.125720611G>A	NCBI36
NG_053153.1:g.47206G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263579.5:c.907G>A (DCPS) MANE Select	ENSP00000263579.4:p.Glu303Lys
ENST00000648516.1:c.628G>A (DCPS)	ENSP00000497684.1:p.Glu210Lys
ENST00000263579.4:c.907G>A (DCPS)	ENSP00000263579.4:p.Glu303Lys
ENST00000529149.1:n.2257G>A (DCPS)
ENST00000530860.5:n.418G>A (DCPS)
NM_014026.4:c.907G>A (DCPS)	NP_054745.1:p.Glu303Lys
NR_033839.1:n.147-3184C>T (GSEC)
XM_011542778.1:c.928G>A (DCPS)	XP_011541080.1:p.Glu310Lys
XM_011542779.1:c.628G>A (DCPS)	XP_011541081.1:p.Glu210Lys
XM_011542780.1:c.628G>A (DCPS)	XP_011541082.1:p.Glu210Lys
NM_001350236.1:c.928G>A (DCPS)	NP_001337165.1:p.Glu310Lys
NM_014026.5:c.907G>A (DCPS)	NP_054745.1:p.Glu303Lys
NM_014026.6:c.907G>A (DCPS) MANE Select	NP_054745.1:p.Glu303Lys
NM_001350236.2:c.928G>A (DCPS)	NP_001337165.1:p.Glu310Lys