Canonical Allele Identifier: CA641428
Gene: PADI6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17382046T>A
GRCh37 chr1:g.17708541T>A
gnomAD v2:
1:17708541 T / A
gnomAD v4:
chr1-17382046-T-A
Joint Max Group AF 0.00002978 (EAS)
Exomes Max Group AF 0.00003348 (EAS)
ClinVar Allele:
359135
ClinVar RCV:
RCV000412664
ClinVar Variation:
372230
dbSNP:
775156958
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17382046T>A , CM000663.2:g.17382046T>A GRCh38
NC_000001.10:g.17708541T>A , CM000663.1:g.17708541T>A GRCh37
NC_000001.9:g.17581128T>A NCBI36
NG_032943.1:g.14801T>A
NG_032943.2:g.14801T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619609.1:c.633T>A MANE Select ENSP00000483125.1:p.His211Gln
NM_207421.4:c.633T>A MANE Select NP_997304.3:p.His211Gln
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