Canonical Allele Identifier: CA641990
Gene: PADI6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3052576
ClinVar RCV Id: RCV003971355
dbSNP Id: rs183565903
gnomAD v2: 1-17727847-T-C
gnomAD v3: 1-17401351-T-C
gnomAD v4: 1-17401351-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17401351T>C , CM000663.2:g.17401351T>C GRCh38
NC_000001.10:g.17727847T>C , CM000663.1:g.17727847T>C GRCh37
NC_000001.9:g.17600434T>C NCBI36
NG_032943.1:g.34106T>C
NG_032943.2:g.34106T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000619609.1:c.1998T>C MANE Select ENSP00000483125.1:p.Cys666=
NM_207421.4:c.1998T>C MANE Select NP_997304.3:p.Cys666=