Canonical Allele Identifier: CA639649
Gene: PADI3 HGNC NCBI

Linked Data

ClinVar Variation Id: 374868
ClinVar RCV Id: RCV000415522 RCV001528551
dbSNP Id: rs142129409
ExAC: 1:17588689 T / A
gnomAD v2: 1-17588689-T-A
gnomAD v3: 1-17262194-T-A
gnomAD v4: 1-17262194-T-A
MyVariant Identifiers: chr1:g.17588689T>A (hg19) chr1:g.17262194T>A (hg38)
PubMed: PMID:27866708
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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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