Canonical Allele Identifier: CA521041903

Gene: PADI6

Linked Data

• dbSNP Id: rs1241390744
• gnomAD v2: 1-17708378-C-T
• gnomAD v3: 1-17381883-C-T
• gnomAD v4: 1-17381883-C-T
• COSMIC: COSN23502946 ; COSN23654229
• MyVariant Identifiers: chr1:g.17708378C>T (hg19) ; chr1:g.17381883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17381883C>T , CM000663.2:g.17381883C>T	GRCh38
NC_000001.10:g.17708378C>T , CM000663.1:g.17708378C>T	GRCh37
NC_000001.9:g.17580965C>T	NCBI36
NG_032943.1:g.14638C>T
NG_032943.2:g.14638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619609.1:c.554-84C>T MANE Select	ENSP00000483125.1:n.554-84C>T
NM_207421.4:c.554-84C>T MANE Select	NP_997304.3:n.554-84C>T