Canonical Allele Identifier: CA408946800
Gene: PTGIS HGNC NCBI
MyVariant.info:
GRCh38 chr20:g.49524089C>G
GRCh37 chr20:g.48140626C>G
Revel Score:
ENST00000244043 (MANE Select) 0.542
gnomAD v4:
chr20-49524089-C-G
Joint Max Group AF 2.8e-7 (NFE)
Exomes Max Group AF 3e-7 (NFE)
dbSNP:
61734270
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.49524089C>G , CM000682.2:g.49524089C>G GRCh38
NC_000020.10:g.48140626C>G , CM000682.1:g.48140626C>G GRCh37
NC_000020.9:g.47574033C>G NCBI36
NG_007940.1:g.49082G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000244043.5:c.824G>C MANE Select ENSP00000244043.3:p.Arg275Pro
ENST00000244043.4:c.824G>C ENSP00000244043.3:p.Arg275Pro
ENST00000478971.1:n.645G>C
NM_000961.3:c.824G>C NP_000952.1:p.Arg275Pro
NM_000961.4:c.824G>C MANE Select NP_000952.1:p.Arg275Pro
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