Canonical Allele Identifier: CA338247360

Gene: PADI4

Linked Data

• MyVariant Identifiers: chr1:g.17672554G>C (hg19) ; chr1:g.17346059G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17346059G>C , CM000663.2:g.17346059G>C	GRCh38
NC_000001.10:g.17672554G>C , CM000663.1:g.17672554G>C	GRCh37
NC_000001.9:g.17545141G>C	NCBI36
NG_023261.2:g.42870G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.967G>C MANE Select	ENSP00000364597.4:p.Val323Leu
ENST00000468945.1:n.26G>C
NM_012387.2:c.967G>C	NP_036519.2:p.Val323Leu
XM_011541150.1:c.781G>C	XP_011539452.1:p.Val261Leu
XM_011541151.1:c.967G>C	XP_011539453.1:p.Val323Leu
XM_011541152.1:c.430G>C	XP_011539454.1:p.Val144Leu
XM_011541153.1:c.967G>C	XP_011539455.1:p.Val323Leu
XM_011541154.1:c.967G>C	XP_011539456.1:p.Val323Leu
XM_011541155.1:c.967G>C	XP_011539457.1:p.Val323Leu
XM_011541156.1:c.967G>C	XP_011539458.1:p.Val323Leu
XM_011541157.1:c.76G>C	XP_011539459.1:p.Val26Leu
XM_011541154.2:c.967G>C	XP_011539456.1:p.Val323Leu
NM_012387.3:c.967G>C MANE Select	NP_036519.2:p.Val323Leu