Canonical Allele Identifier: CA9903385
Gene: PTGIS HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.49513151G>C
GRCh37 chr20:g.48129688G>C
Revel Score:
ENST00000244043 (MANE Select) 0.100
gnomAD v2:
20:48129688 G / C
gnomAD v3:
20:49513151 G / C
gnomAD v4:
chr20-49513151-G-C
Joint Max Group AF 7.9e-7 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 3e-7 (NFE)
dbSNP:
56195291
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49513151G>C , CM000682.2:g.49513151G>C GRCh38
NC_000020.10:g.48129688G>C , CM000682.1:g.48129688G>C GRCh37
NC_000020.9:g.47563095G>C NCBI36
NG_007940.1:g.60020C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000244043.5:c.1135C>G MANE Select ENSP00000244043.3:p.Arg379Gly
ENST00000244043.4:c.1135C>G ENSP00000244043.3:p.Arg379Gly
ENST00000478971.1:n.956C>G
NM_000961.3:c.1135C>G NP_000952.1:p.Arg379Gly
NM_000961.4:c.1135C>G MANE Select NP_000952.1:p.Arg379Gly
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