Canonical Allele Identifier: CA6355204

Gene: DCPS GSEC

Linked Data

• ClinVar Variation Id: 733915
• ClinVar RCV Id: RCV000909278
• dbSNP Id: rs143294413
• ExAC: 11:126215448 C / T
• gnomAD v2: 11-126215448-C-T
• gnomAD v3: 11-126345553-C-T
• gnomAD v4: 11-126345553-C-T
• MyVariant Identifiers: chr11:g.126215448C>T (hg19) ; chr11:g.126345553C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126345553C>T , CM000673.2:g.126345553C>T	GRCh38
NC_000011.9:g.126215448C>T , CM000673.1:g.126215448C>T	GRCh37
NC_000011.8:g.125720658C>T	NCBI36
NG_053153.1:g.47253C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263579.5:c.954C>T (DCPS) MANE Select	ENSP00000263579.4:p.Thr318=
ENST00000648516.1:c.675C>T (DCPS)	ENSP00000497684.1:p.Thr225=
ENST00000263579.4:c.954C>T (DCPS)	ENSP00000263579.4:p.Thr318=
ENST00000529149.1:n.2304C>T (DCPS)
ENST00000530860.5:n.465C>T (DCPS)
NM_014026.4:c.954C>T (DCPS)	NP_054745.1:p.Thr318=
NR_033839.1:n.147-3231G>A (GSEC)
XM_011542778.1:c.975C>T (DCPS)	XP_011541080.1:p.Thr325=
XM_011542779.1:c.675C>T (DCPS)	XP_011541081.1:p.Thr225=
XM_011542780.1:c.675C>T (DCPS)	XP_011541082.1:p.Thr225=
NM_001350236.1:c.975C>T (DCPS)	NP_001337165.1:p.Thr325=
NM_014026.5:c.954C>T (DCPS)	NP_054745.1:p.Thr318=
NM_014026.6:c.954C>T (DCPS) MANE Select	NP_054745.1:p.Thr318=
NM_001350236.2:c.975C>T (DCPS)	NP_001337165.1:p.Thr325=