Canonical Allele Identifier: CA639649
Gene: PADI3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17262194T>A
GRCh37 chr1:g.17588689T>A
Revel Score:
ENST00000375460 (MANE Select) 0.454
gnomAD v2:
1:17588689 T / A
gnomAD v3:
1:17262194 T / A
gnomAD v4:
chr1-17262194-T-A
Joint Max Group AF 0.00826646 (NFE)
Genomes Max Group AF 0.00698798 (NFE)
Exomes Max Group AF 0.00831645 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17262194T>A , CM000663.2:g.17262194T>A GRCh38
NC_000001.10:g.17588689T>A , CM000663.1:g.17588689T>A GRCh37
NC_000001.9:g.17461276T>A NCBI36
NG_052788.1:g.18116T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000375460.3:c.335T>A MANE Select ENSP00000364609.3:p.Leu112His
NM_016233.2:c.335T>A MANE Select NP_057317.2:p.Leu112His
XM_006710684.2:c.221T>A XP_006710747.1:p.Leu74His
XM_011541571.1:c.221T>A XP_011539873.1:p.Leu74His
XM_011541572.1:c.335T>A XP_011539874.1:p.Leu112His
XM_011541571.2:c.221T>A XP_011539873.1:p.Leu74His
XM_011541572.2:c.335T>A XP_011539874.1:p.Leu112His
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