Canonical Allele Identifier: CA338249725

Gene: PADI4

Linked Data

• gnomAD v4: 1-17348048-G-T
• MyVariant Identifiers: chr1:g.17674543G>T (hg19) ; chr1:g.17348048G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17348048G>T , CM000663.2:g.17348048G>T	GRCh38
NC_000001.10:g.17674543G>T , CM000663.1:g.17674543G>T	GRCh37
NC_000001.9:g.17547130G>T	NCBI36
NG_023261.2:g.44859G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1155G>T MANE Select	ENSP00000364597.4:p.Met385Ile
ENST00000468945.1:n.214G>T
ENST00000487048.5:n.122G>T
NM_012387.2:c.1155G>T	NP_036519.2:p.Met385Ile
XM_011541150.1:c.969G>T	XP_011539452.1:p.Met323Ile
XM_011541151.1:c.1155G>T	XP_011539453.1:p.Met385Ile
XM_011541152.1:c.618G>T	XP_011539454.1:p.Met206Ile
XM_011541153.1:c.1155G>T	XP_011539455.1:p.Met385Ile
XM_011541154.1:c.1155G>T	XP_011539456.1:p.Met385Ile
XM_011541155.1:c.1155G>T	XP_011539457.1:p.Met385Ile
XM_011541156.1:c.1155G>T	XP_011539458.1:p.Met385Ile
XM_011541157.1:c.264G>T	XP_011539459.1:p.Met88Ile
XM_011541154.2:c.1155G>T	XP_011539456.1:p.Met385Ile
NM_012387.3:c.1155G>T MANE Select	NP_036519.2:p.Met385Ile