Canonical Allele Identifier: CA642016

Gene: PADI6

Linked Data

• dbSNP Id: rs748988623
• ExAC: 1:17727968 C / T
• gnomAD v2: 1-17727968-C-T
• gnomAD v3: 1-17401472-C-T
• gnomAD v4: 1-17401472-C-T
• MyVariant Identifiers: chr1:g.17727968C>T (hg19) ; chr1:g.17401472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17401472C>T , CM000663.2:g.17401472C>T	GRCh38
NC_000001.10:g.17727968C>T , CM000663.1:g.17727968C>T	GRCh37
NC_000001.9:g.17600555C>T	NCBI36
NG_032943.1:g.34227C>T
NG_032943.2:g.34227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619609.1:c.*34C>T MANE Select	ENSP00000483125.1:n.*34C>T
NM_207421.4:c.*34C>T MANE Select	NP_997304.3:n.*34C>T