Canonical Allele Identifier: CA10460873
Gene: GPR174 HGNC NCBI
COSMIC:
COSM1179849 (not active)
MyVariant.info:
GRCh38 chrX:g.79171491T>C
GRCh37 chrX:g.78426988T>C
Revel Score:
ENST00000276077 0.105
gnomAD v2:
X:78426988 T / C
gnomAD v3:
X:79171491 T / C
gnomAD v4:
chrX-79171491-T-C
Joint Max Group AF 0.59772018 (NFE)
Genomes Max Group AF 0.58789932 (NFE)
Exomes Max Group AF 0.59803189 (NFE)
ClinVar RCV:
RCV003979534
ClinVar Variation:
3058904
dbSNP:
3827440
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.79171491T>C , CM000685.2:g.79171491T>C GRCh38
NC_000023.10:g.78426988T>C , CM000685.1:g.78426988T>C GRCh37
NC_000023.9:g.78313644T>C NCBI36
NG_016565.1:g.5520T>C
NG_016565.2:g.5520T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000645147.2:c.484T>C MANE Select ENSP00000494310.1:p.Ser162Pro
ENST00000276077.1:c.484T>C ENSP00000276077.1:p.Ser162Pro
NM_032553.1:c.484T>C NP_115942.1:p.Ser162Pro
NM_032553.2:c.484T>C NP_115942.1:p.Ser162Pro
XR_001755901.2:n.760+14573T>C
XR_001755902.2:n.777+14573T>C
XR_001755903.2:n.756+14573T>C
NM_032553.3:c.484T>C MANE Select NP_115942.1:p.Ser162Pro
Search 100 bp 5'
Search 100 bp 3'