Canonical Allele Identifier: CA641684

Gene: PADI6

Linked Data

• dbSNP Id: rs754593236
• ExAC: 1:17720800 C / T
• gnomAD v2: 1-17720800-C-T
• gnomAD v3: 1-17394304-C-T
• gnomAD v4: 1-17394304-C-T
• MyVariant Identifiers: chr1:g.17720800C>T (hg19) ; chr1:g.17394304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17394304C>T , CM000663.2:g.17394304C>T	GRCh38
NC_000001.10:g.17720800C>T , CM000663.1:g.17720800C>T	GRCh37
NC_000001.9:g.17593387C>T	NCBI36
NG_032943.1:g.27059C>T
NG_032943.2:g.27059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000619609.1:c.1187C>T MANE Select	ENSP00000483125.1:p.Pro396Leu
NM_207421.4:c.1187C>T MANE Select	NP_997304.3:p.Pro396Leu