Canonical Allele Identifier: CA338236229

Gene: PADI4

Linked Data

• dbSNP Id: rs1283675704
• gnomAD v2: 1-17662668-G-C
• gnomAD v4: 1-17336173-G-C
• MyVariant Identifiers: chr1:g.17662668G>C (hg19) ; chr1:g.17336173G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17336173G>C , CM000663.2:g.17336173G>C	GRCh38
NC_000001.10:g.17662668G>C , CM000663.1:g.17662668G>C	GRCh37
NC_000001.9:g.17535255G>C	NCBI36
NG_023261.2:g.32984G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.355G>C MANE Select	ENSP00000364597.4:p.Ala119Pro
NM_012387.2:c.355G>C	NP_036519.2:p.Ala119Pro
XM_011541150.1:c.340+2164G>C	XP_011539452.1:n.340+2164G>C
XM_011541151.1:c.355G>C	XP_011539453.1:p.Ala119Pro
XM_011541152.1:c.-65G>C	XP_011539454.1:n.-65G>C
XM_011541153.1:c.355G>C	XP_011539455.1:p.Ala119Pro
XM_011541154.1:c.355G>C	XP_011539456.1:p.Ala119Pro
XM_011541155.1:c.355G>C	XP_011539457.1:p.Ala119Pro
XM_011541156.1:c.355G>C	XP_011539458.1:p.Ala119Pro
XM_011541157.1:c.-358G>C	XP_011539459.1:n.-358G>C
XM_011541154.2:c.355G>C	XP_011539456.1:p.Ala119Pro
NM_012387.3:c.355G>C MANE Select	NP_036519.2:p.Ala119Pro