Canonical Allele Identifier: CA338249606

Gene: PADI4

Linked Data

• MyVariant Identifiers: chr1:g.17674487G>C (hg19) ; chr1:g.17347992G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.17347992G>C , CM000663.2:g.17347992G>C	GRCh38
NC_000001.10:g.17674487G>C , CM000663.1:g.17674487G>C	GRCh37
NC_000001.9:g.17547074G>C	NCBI36
NG_023261.2:g.44803G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375448.4:c.1099G>C MANE Select	ENSP00000364597.4:p.Val367Leu
ENST00000468945.1:n.158G>C
ENST00000487048.5:n.66G>C
NM_012387.2:c.1099G>C	NP_036519.2:p.Val367Leu
XM_011541150.1:c.913G>C	XP_011539452.1:p.Val305Leu
XM_011541151.1:c.1099G>C	XP_011539453.1:p.Val367Leu
XM_011541152.1:c.562G>C	XP_011539454.1:p.Val188Leu
XM_011541153.1:c.1099G>C	XP_011539455.1:p.Val367Leu
XM_011541154.1:c.1099G>C	XP_011539456.1:p.Val367Leu
XM_011541155.1:c.1099G>C	XP_011539457.1:p.Val367Leu
XM_011541156.1:c.1099G>C	XP_011539458.1:p.Val367Leu
XM_011541157.1:c.208G>C	XP_011539459.1:p.Val70Leu
XM_011541154.2:c.1099G>C	XP_011539456.1:p.Val367Leu
NM_012387.3:c.1099G>C MANE Select	NP_036519.2:p.Val367Leu