Canonical Allele Identifier: CA521046713

Gene: PADI4

Linked Data

• dbSNP Id: rs1250128739
• gnomAD v2: 1-17674690-A-G
• gnomAD v3: 1-17348195-A-G
• gnomAD v4: 1-17348195-A-G
• MyVariant Identifiers: chr1:g.17674690A>G (hg19) ; chr1:g.17348195A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17348195A>G , CM000663.2:g.17348195A>G	GRCh38
NC_000001.10:g.17674690A>G , CM000663.1:g.17674690A>G	GRCh37
NC_000001.9:g.17547277A>G	NCBI36
NG_023261.2:g.45006A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1155+147A>G MANE Select	ENSP00000364597.4:n.1155+147A>G
ENST00000468945.1:n.361A>G
ENST00000487048.5:n.122+147A>G
NM_012387.2:c.1155+147A>G	NP_036519.2:n.1155+147A>G
XM_011541150.1:c.969+147A>G	XP_011539452.1:n.969+147A>G
XM_011541151.1:c.1155+147A>G	XP_011539453.1:n.1155+147A>G
XM_011541152.1:c.618+147A>G	XP_011539454.1:n.618+147A>G
XM_011541153.1:c.1155+147A>G	XP_011539455.1:n.1155+147A>G
XM_011541154.1:c.1155+147A>G	XP_011539456.1:n.1155+147A>G
XM_011541155.1:c.1155+147A>G	XP_011539457.1:n.1155+147A>G
XM_011541156.1:c.1155+147A>G	XP_011539458.1:n.1155+147A>G
XM_011541157.1:c.264+147A>G	XP_011539459.1:n.264+147A>G
XM_011541154.2:c.1155+147A>G	XP_011539456.1:n.1155+147A>G
NM_012387.3:c.1155+147A>G MANE Select	NP_036519.2:n.1155+147A>G