Canonical Allele Identifier: CA383221411

Gene: DCPS GSEC

Linked Data

• dbSNP Id: rs749537300
• gnomAD v2: 11-126215494-G-T
• gnomAD v4: 11-126345599-G-T
• MyVariant Identifiers: chr11:g.126215494G>T (hg19) ; chr11:g.126345599G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126345599G>T , CM000673.2:g.126345599G>T	GRCh38
NC_000011.9:g.126215494G>T , CM000673.1:g.126215494G>T	GRCh37
NC_000011.8:g.125720704G>T	NCBI36
NG_053153.1:g.47299G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263579.5:c.1000G>T (DCPS) MANE Select	ENSP00000263579.4:p.Ala334Ser
ENST00000648516.1:c.721G>T (DCPS)	ENSP00000497684.1:p.Ala241Ser
ENST00000263579.4:c.1000G>T (DCPS)	ENSP00000263579.4:p.Ala334Ser
ENST00000529149.1:n.2350G>T (DCPS)
ENST00000530860.5:n.511G>T (DCPS)
NM_014026.4:c.1000G>T (DCPS)	NP_054745.1:p.Ala334Ser
NR_033839.1:n.147-3277C>A (GSEC)
XM_011542778.1:c.1021G>T (DCPS)	XP_011541080.1:p.Ala341Ser
XM_011542779.1:c.721G>T (DCPS)	XP_011541081.1:p.Ala241Ser
XM_011542780.1:c.721G>T (DCPS)	XP_011541082.1:p.Ala241Ser
NM_001350236.1:c.1021G>T (DCPS)	NP_001337165.1:p.Ala341Ser
NM_014026.5:c.1000G>T (DCPS)	NP_054745.1:p.Ala334Ser
NM_014026.6:c.1000G>T (DCPS) MANE Select	NP_054745.1:p.Ala334Ser
NM_001350236.2:c.1021G>T (DCPS)	NP_001337165.1:p.Ala341Ser