Canonical Allele Identifier: CA29715851
Gene: PTGFRN HGNC NCBI

Linked Data

dbSNP Id: rs529425352
gnomAD v3: 1-116925229-A-G
gnomAD v4: 1-116925229-A-G
MyVariant Identifiers: chr1:g.117467851A>G (hg19) chr1:g.116925229A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.116925229A>G , CM000663.2:g.116925229A>G GRCh38
NC_000001.10:g.117467851A>G , CM000663.1:g.117467851A>G GRCh37
NC_000001.9:g.117269374A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000393203.3:c.49+14977A>G MANE Select ENSP00000376899.2:n.49+14977A>G
ENST00000393203.2:c.49+14977A>G ENSP00000376899.2:n.49+14977A>G
NM_020440.3:c.49+14977A>G NP_065173.2:n.49+14977A>G
NM_020440.4:c.49+14977A>G MANE Select NP_065173.2:n.49+14977A>G
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