Canonical Allele Identifier: CA10764342
Gene: PADI6 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.17395867G>A
GRCh37 chr1:g.17722363G>A
gnomAD v2:
1:17722363 G / A
gnomAD v3:
1:17395867 G / A
gnomAD v4:
chr1-17395867-G-A
Joint Max Group AF 0.37927715 (SAS)
Genomes Max Group AF 0.37927715 (SAS)
ClinVar RCV:
RCV000874575
ClinVar Variation:
704516
dbSNP:
7538876
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17395867G>A , CM000663.2:g.17395867G>A GRCh38
NC_000001.10:g.17722363G>A , CM000663.1:g.17722363G>A GRCh37
NC_000001.9:g.17594950G>A NCBI36
NG_032943.1:g.28622G>A
NG_032943.2:g.28622G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619609.1:c.1618+204G>A MANE Select ENSP00000483125.1:n.1618+204G>A
NM_207421.4:c.1618+204G>A MANE Select NP_997304.3:n.1618+204G>A
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