Canonical Allele Identifier: CA338256313

Gene: PADI4

Linked Data

• dbSNP Id: rs1320128126
• gnomAD v2: 1-17682533-G-T
• gnomAD v4: 1-17356038-G-T
• MyVariant Identifiers: chr1:g.17682533G>T (hg19) ; chr1:g.17356038G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17356038G>T , CM000663.2:g.17356038G>T	GRCh38
NC_000001.10:g.17682533G>T , CM000663.1:g.17682533G>T	GRCh37
NC_000001.9:g.17555120G>T	NCBI36
NG_023261.2:g.52849G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1366G>T MANE Select	ENSP00000364597.4:p.Val456Leu
ENST00000467001.1:n.267G>T
ENST00000487048.5:n.333G>T
NM_012387.2:c.1366G>T	NP_036519.2:p.Val456Leu
XM_011541150.1:c.1180G>T	XP_011539452.1:p.Val394Leu
XM_011541151.1:c.1156-319G>T	XP_011539453.1:n.1156-319G>T
XM_011541152.1:c.829G>T	XP_011539454.1:p.Val277Leu
XM_011541154.1:c.*103G>T	XP_011539456.1:n.*103G>T
XM_011541156.1:c.*50G>T	XP_011539458.1:n.*50G>T
XM_011541157.1:c.475G>T	XP_011539459.1:p.Val159Leu
XM_011541154.2:c.*103G>T	XP_011539456.1:n.*103G>T
NM_012387.3:c.1366G>T MANE Select	NP_036519.2:p.Val456Leu