Canonical Allele Identifier: CA338234100

Gene: PADI4

Linked Data

• dbSNP Id: rs1416390128
• gnomAD v2: 1-17660453-T-C
• gnomAD v4: 1-17333958-T-C
• MyVariant Identifiers: chr1:g.17660453T>C (hg19) ; chr1:g.17333958T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17333958T>C , CM000663.2:g.17333958T>C	GRCh38
NC_000001.10:g.17660453T>C , CM000663.1:g.17660453T>C	GRCh37
NC_000001.9:g.17533040T>C	NCBI36
NG_023261.2:g.30769T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.289T>C MANE Select	ENSP00000364597.4:p.Tyr97His
ENST00000375453.5:c.289T>C	ENSP00000364602.1:p.Tyr97His
NM_012387.2:c.289T>C	NP_036519.2:p.Tyr97His
XM_011541150.1:c.289T>C	XP_011539452.1:p.Tyr97His
XM_011541151.1:c.289T>C	XP_011539453.1:p.Tyr97His
XM_011541153.1:c.289T>C	XP_011539455.1:p.Tyr97His
XM_011541154.1:c.289T>C	XP_011539456.1:p.Tyr97His
XM_011541155.1:c.289T>C	XP_011539457.1:p.Tyr97His
XM_011541156.1:c.289T>C	XP_011539458.1:p.Tyr97His
XM_011541154.2:c.289T>C	XP_011539456.1:p.Tyr97His
NM_012387.3:c.289T>C MANE Select	NP_036519.2:p.Tyr97His