Canonical Allele Identifier: CA641660
Gene: PADI6 HGNC NCBI

Linked Data

ClinVar Variation Id: 3045571
ClinVar RCV Id: RCV003934380
dbSNP Id: rs145873927
ExAC: 1:17720587 C / T
gnomAD v2: 1-17720587-C-T
gnomAD v3: 1-17394091-C-T
gnomAD v4: 1-17394091-C-T
MyVariant Identifiers: chr1:g.17720587C>T (hg19) chr1:g.17394091C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.17394091C>T , CM000663.2:g.17394091C>T GRCh38
NC_000001.10:g.17720587C>T , CM000663.1:g.17720587C>T GRCh37
NC_000001.9:g.17593174C>T NCBI36
NG_032943.1:g.26846C>T
NG_032943.2:g.26846C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000619609.1:c.1182+9C>T MANE Select ENSP00000483125.1:n.1182+9C>T
NM_207421.4:c.1182+9C>T MANE Select NP_997304.3:n.1182+9C>T
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