Canonical Allele Identifier: CA640249
Gene: PADI3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17282897C>A
GRCh37 chr1:g.17609392C>A
Revel Score:
ENST00000375460 (MANE Select) 0.752
gnomAD v2:
1:17609392 C / A
gnomAD v3:
1:17282897 C / A
gnomAD v4:
chr1-17282897-C-A
Joint Max Group AF 0.000974 (NFE)
Genomes Max Group AF 0.0009411 (NFE)
Exomes Max Group AF 0.00096528 (NFE)
ClinVar Allele:
361774
ClinVar RCV:
RCV000415553
ClinVar Variation:
374869
dbSNP:
144944758
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17282897C>A , CM000663.2:g.17282897C>A GRCh38
NC_000001.10:g.17609392C>A , CM000663.1:g.17609392C>A GRCh37
NC_000001.9:g.17481979C>A NCBI36
NG_052788.1:g.38819C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375460.3:c.1813C>A MANE Select ENSP00000364609.3:p.Pro605Thr
NM_016233.2:c.1813C>A MANE Select NP_057317.2:p.Pro605Thr
XM_006710684.2:c.1699C>A XP_006710747.1:p.Pro567Thr
XM_011541571.1:c.1699C>A XP_011539873.1:p.Pro567Thr
XM_011541571.2:c.1699C>A XP_011539873.1:p.Pro567Thr
XM_017001463.1:c.1276C>A XP_016856952.1:p.Pro426Thr
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