Canonical Allele Identifier: CA338256241

Gene: PADI4

Linked Data

• gnomAD v4: 1-17356029-G-C
• MyVariant Identifiers: chr1:g.17682524G>C (hg19) ; chr1:g.17356029G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17356029G>C , CM000663.2:g.17356029G>C	GRCh38
NC_000001.10:g.17682524G>C , CM000663.1:g.17682524G>C	GRCh37
NC_000001.9:g.17555111G>C	NCBI36
NG_023261.2:g.52840G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1357G>C MANE Select	ENSP00000364597.4:p.Ala453Pro
ENST00000467001.1:n.258G>C
ENST00000487048.5:n.324G>C
NM_012387.2:c.1357G>C	NP_036519.2:p.Ala453Pro
XM_011541150.1:c.1171G>C	XP_011539452.1:p.Ala391Pro
XM_011541151.1:c.1156-328G>C	XP_011539453.1:n.1156-328G>C
XM_011541152.1:c.820G>C	XP_011539454.1:p.Ala274Pro
XM_011541154.1:c.*94G>C	XP_011539456.1:n.*94G>C
XM_011541156.1:c.*41G>C	XP_011539458.1:n.*41G>C
XM_011541157.1:c.466G>C	XP_011539459.1:p.Ala156Pro
XM_011541154.2:c.*94G>C	XP_011539456.1:n.*94G>C
NM_012387.3:c.1357G>C MANE Select	NP_036519.2:p.Ala453Pro