Canonical Allele Identifier: CA641974
Gene: PADI6 HGNC NCBI

Linked Data

dbSNP Id: rs529720720
ExAC: 1:17727800 C / A
gnomAD v2: 1-17727800-C-A
gnomAD v3: 1-17401304-C-A
gnomAD v4: 1-17401304-C-A
COSMIC: COSM4226525
MyVariant Identifiers: chr1:g.17727800C>A (hg19) chr1:g.17401304C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17401304C>A , CM000663.2:g.17401304C>A GRCh38
NC_000001.10:g.17727800C>A , CM000663.1:g.17727800C>A GRCh37
NC_000001.9:g.17600387C>A NCBI36
NG_032943.1:g.34059C>A
NG_032943.2:g.34059C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000619609.1:c.1951C>A MANE Select ENSP00000483125.1:p.Leu651Met
NM_207421.4:c.1951C>A MANE Select NP_997304.3:p.Leu651Met
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