Canonical Allele Identifier: CA338234436

Gene: PADI4

Linked Data

• dbSNP Id: rs1284618945
• gnomAD v2: 1-17660487-T-C
• gnomAD v4: 1-17333992-T-C
• MyVariant Identifiers: chr1:g.17660487T>C (hg19) ; chr1:g.17333992T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17333992T>C , CM000663.2:g.17333992T>C	GRCh38
NC_000001.10:g.17660487T>C , CM000663.1:g.17660487T>C	GRCh37
NC_000001.9:g.17533074T>C	NCBI36
NG_023261.2:g.30803T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.323T>C MANE Select	ENSP00000364597.4:p.Leu108Pro
ENST00000375453.5:c.323T>C	ENSP00000364602.1:p.Leu108Pro
NM_012387.2:c.323T>C	NP_036519.2:p.Leu108Pro
XM_011541150.1:c.323T>C	XP_011539452.1:p.Leu108Pro
XM_011541151.1:c.323T>C	XP_011539453.1:p.Leu108Pro
XM_011541152.1:c.-97T>C	XP_011539454.1:n.-97T>C
XM_011541153.1:c.323T>C	XP_011539455.1:p.Leu108Pro
XM_011541154.1:c.323T>C	XP_011539456.1:p.Leu108Pro
XM_011541155.1:c.323T>C	XP_011539457.1:p.Leu108Pro
XM_011541156.1:c.323T>C	XP_011539458.1:p.Leu108Pro
XM_011541157.1:c.-390T>C	XP_011539459.1:n.-390T>C
XM_011541154.2:c.323T>C	XP_011539456.1:p.Leu108Pro
NM_012387.3:c.323T>C MANE Select	NP_036519.2:p.Leu108Pro