Canonical Allele Identifier: CA6355186

Gene: DCPS GSEC

Linked Data

• dbSNP Id: rs757027747
• ExAC: 11:126215388 G / C
• gnomAD v2: 11-126215388-G-C
• gnomAD v4: 11-126345493-G-C
• MyVariant Identifiers: chr11:g.126215388G>C (hg19) ; chr11:g.126345493G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126345493G>C , CM000673.2:g.126345493G>C	GRCh38
NC_000011.9:g.126215388G>C , CM000673.1:g.126215388G>C	GRCh37
NC_000011.8:g.125720598G>C	NCBI36
NG_053153.1:g.47193G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263579.5:c.894G>C (DCPS) MANE Select	ENSP00000263579.4:p.Leu298=
ENST00000648516.1:c.615G>C (DCPS)	ENSP00000497684.1:p.Leu205=
ENST00000263579.4:c.894G>C (DCPS)	ENSP00000263579.4:p.Leu298=
ENST00000529149.1:n.2244G>C (DCPS)
ENST00000530860.5:n.405G>C (DCPS)
NM_014026.4:c.894G>C (DCPS)	NP_054745.1:p.Leu298=
NR_033839.1:n.147-3171C>G (GSEC)
XM_011542778.1:c.915G>C (DCPS)	XP_011541080.1:p.Leu305=
XM_011542779.1:c.615G>C (DCPS)	XP_011541081.1:p.Leu205=
XM_011542780.1:c.615G>C (DCPS)	XP_011541082.1:p.Leu205=
NM_001350236.1:c.915G>C (DCPS)	NP_001337165.1:p.Leu305=
NM_014026.5:c.894G>C (DCPS)	NP_054745.1:p.Leu298=
NM_014026.6:c.894G>C (DCPS) MANE Select	NP_054745.1:p.Leu298=
NM_001350236.2:c.915G>C (DCPS)	NP_001337165.1:p.Leu305=