Canonical Allele Identifier: CA338245703
Gene: PADI6 HGNC NCBI

Linked Data

dbSNP Id: rs369994332
gnomAD v2: 1-17708530-C-G
MyVariant Identifiers: chr1:g.17708530C>G (hg19) chr1:g.17382035C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17382035C>G , CM000663.2:g.17382035C>G GRCh38
NC_000001.10:g.17708530C>G , CM000663.1:g.17708530C>G GRCh37
NC_000001.9:g.17581117C>G NCBI36
NG_032943.1:g.14790C>G
NG_032943.2:g.14790C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000619609.1:c.622C>G MANE Select ENSP00000483125.1:p.Leu208Val
NM_207421.4:c.622C>G MANE Select NP_997304.3:p.Leu208Val
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