Canonical Allele Identifier: CA338247292

Gene: PADI4

Linked Data

• MyVariant Identifiers: chr1:g.17672546T>C (hg19) ; chr1:g.17346051T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17346051T>C , CM000663.2:g.17346051T>C	GRCh38
NC_000001.10:g.17672546T>C , CM000663.1:g.17672546T>C	GRCh37
NC_000001.9:g.17545133T>C	NCBI36
NG_023261.2:g.42862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.959T>C MANE Select	ENSP00000364597.4:p.Leu320Pro
ENST00000468945.1:n.18T>C
NM_012387.2:c.959T>C	NP_036519.2:p.Leu320Pro
XM_011541150.1:c.773T>C	XP_011539452.1:p.Leu258Pro
XM_011541151.1:c.959T>C	XP_011539453.1:p.Leu320Pro
XM_011541152.1:c.422T>C	XP_011539454.1:p.Leu141Pro
XM_011541153.1:c.959T>C	XP_011539455.1:p.Leu320Pro
XM_011541154.1:c.959T>C	XP_011539456.1:p.Leu320Pro
XM_011541155.1:c.959T>C	XP_011539457.1:p.Leu320Pro
XM_011541156.1:c.959T>C	XP_011539458.1:p.Leu320Pro
XM_011541157.1:c.68T>C	XP_011539459.1:p.Leu23Pro
XM_011541154.2:c.959T>C	XP_011539456.1:p.Leu320Pro
NM_012387.3:c.959T>C MANE Select	NP_036519.2:p.Leu320Pro