Canonical Allele Identifier: CA338249723

Gene: PADI4

Linked Data

• gnomAD v4: 1-17348047-T-C
• MyVariant Identifiers: chr1:g.17674542T>C (hg19) ; chr1:g.17348047T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17348047T>C , CM000663.2:g.17348047T>C	GRCh38
NC_000001.10:g.17674542T>C , CM000663.1:g.17674542T>C	GRCh37
NC_000001.9:g.17547129T>C	NCBI36
NG_023261.2:g.44858T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1154T>C MANE Select	ENSP00000364597.4:p.Met385Thr
ENST00000468945.1:n.213T>C
ENST00000487048.5:n.121T>C
NM_012387.2:c.1154T>C	NP_036519.2:p.Met385Thr
XM_011541150.1:c.968T>C	XP_011539452.1:p.Met323Thr
XM_011541151.1:c.1154T>C	XP_011539453.1:p.Met385Thr
XM_011541152.1:c.617T>C	XP_011539454.1:p.Met206Thr
XM_011541153.1:c.1154T>C	XP_011539455.1:p.Met385Thr
XM_011541154.1:c.1154T>C	XP_011539456.1:p.Met385Thr
XM_011541155.1:c.1154T>C	XP_011539457.1:p.Met385Thr
XM_011541156.1:c.1154T>C	XP_011539458.1:p.Met385Thr
XM_011541157.1:c.263T>C	XP_011539459.1:p.Met88Thr
XM_011541154.2:c.1154T>C	XP_011539456.1:p.Met385Thr
NM_012387.3:c.1154T>C MANE Select	NP_036519.2:p.Met385Thr