Canonical Allele Identifier: CA10344958
Gene: GPR143 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.9743637G>A
GRCh37 chrX:g.9711677G>A
Revel Score:
ENST00000467482 (MANE Select) 0.948
ENST00000380929 0.948
ENST00000431126 0.948
gnomAD v2:
X:9711677 G / A
gnomAD v3:
X:9743637 G / A
gnomAD v4:
chrX-9743637-G-A
Joint Max Group AF 0.00002362 (SAS)
Genomes Max Group AF 0.00001072 (AFR)
Exomes Max Group AF 0.00002547 (SAS)
ClinVar RCV:
RCV001581766
RCV002570842
ClinVar Variation:
1213617
dbSNP:
137852297
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.9743637G>A , CM000685.2:g.9743637G>A GRCh38
NC_000023.10:g.9711677G>A , CM000685.1:g.9711677G>A GRCh37
NC_000023.9:g.9671677G>A NCBI36
NG_009074.1:g.27241C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000467482.6:c.695C>T MANE Select ENSP00000417161.1:p.Thr232Met
ENST00000431126.1:c.443C>T ENSP00000406138.1:p.Thr148Met
ENST00000447366.5:c.443C>T ENSP00000390546.2:p.Thr148Met
ENST00000467482.5:c.695C>T ENSP00000417161.1:p.Thr232Met
NM_000273.2:c.695C>T NP_000264.2:p.Thr232Met
XM_005274541.2:c.695C>T XP_005274598.1:p.Thr232Met
XM_005274541.3:c.695C>T XP_005274598.1:p.Thr232Met
XM_024452387.1:c.443C>T XP_024308155.1:p.Thr148Met
XM_024452388.1:c.443C>T XP_024308156.1:p.Thr148Met
NM_000273.3:c.695C>T MANE Select NP_000264.2:p.Thr232Met
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