Canonical Allele Identifier: CA10460874
Gene: GPR174 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.79171491T>A
GRCh37 chrX:g.78426988T>A
Revel Score:
ENST00000276077 0.070
gnomAD v2:
X:78426988 T / A
gnomAD v3:
X:79171491 T / A
gnomAD v4:
chrX-79171491-T-A
Joint Max Group AF 0.00002346 (AFR)
Genomes Max Group AF 0.00002625 (AFR)
dbSNP:
3827440
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000645147.2:c.484T>A MANE Select ENSP00000494310.1:p.Ser162Thr
ENST00000276077.1:c.484T>A ENSP00000276077.1:p.Ser162Thr
NM_032553.1:c.484T>A NP_115942.1:p.Ser162Thr
NM_032553.2:c.484T>A NP_115942.1:p.Ser162Thr
XR_001755901.2:n.760+14573T>A
XR_001755902.2:n.777+14573T>A
XR_001755903.2:n.756+14573T>A
NM_032553.3:c.484T>A MANE Select NP_115942.1:p.Ser162Thr
Search 100 bp 5'
Search 100 bp 3'