Canonical Allele Identifier: CA18646032
Gene: PADI6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3055140
ClinVar RCV Id: RCV003971929
dbSNP Id: rs372214311
gnomAD v3: 1-17392168-C-T
gnomAD v4: 1-17392168-C-T
MyVariant Identifiers: chr1:g.17392168C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17392168C>T , CM000663.2:g.17392168C>T GRCh38
NG_032943.1:g.24923C>T
NG_032943.2:g.24923C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000619609.1:c.1017C>T MANE Select ENSP00000483125.1:p.Ser339=
NM_207421.4:c.1017C>T MANE Select NP_997304.3:p.Ser339=
Search 100 bp 5'
Search 100 bp 3'