Canonical Allele Identifier: CA640897

Gene: PADI4

Linked Data

• dbSNP Id: rs747165135
• ExAC: 1:17682674 C / T
• gnomAD v2: 1-17682674-C-T
• gnomAD v3: 1-17356179-C-T
• gnomAD v4: 1-17356179-C-T
• MyVariant Identifiers: chr1:g.17682674C>T (hg19) ; chr1:g.17356179C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17356179C>T , CM000663.2:g.17356179C>T	GRCh38
NC_000001.10:g.17682674C>T , CM000663.1:g.17682674C>T	GRCh37
NC_000001.9:g.17555261C>T	NCBI36
NG_023261.2:g.52990C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1455+52C>T MANE Select	ENSP00000364597.4:n.1455+52C>T
ENST00000467001.1:n.356+52C>T
ENST00000487048.5:n.422+52C>T
NM_012387.2:c.1455+52C>T	NP_036519.2:n.1455+52C>T
XM_011541150.1:c.1269+52C>T	XP_011539452.1:n.1269+52C>T
XM_011541151.1:c.1156-178C>T	XP_011539453.1:n.1156-178C>T
XM_011541152.1:c.918+52C>T	XP_011539454.1:n.918+52C>T
XM_011541157.1:c.564+52C>T	XP_011539459.1:n.564+52C>T
NM_012387.3:c.1455+52C>T MANE Select	NP_036519.2:n.1455+52C>T