Canonical Allele Identifier: CA16617860

Gene: P3H2

Linked Data

• ClinVar Variation Id: 424202
• ClinVar RCV Id: RCV000486475
• dbSNP Id: rs1064796858
• MyVariant Identifiers: chr3:g.189692346C>A (hg19) ; chr3:g.189974557C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189974557C>A , CM000665.2:g.189974557C>A	GRCh38
NC_000003.11:g.189692346C>A , CM000665.1:g.189692346C>A	GRCh37
NC_000003.10:g.191175040C>A	NCBI36
NG_031929.1:g.152881G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000319332.10:c.1452+1G>T MANE Select	ENSP00000316881.5:n.1452+1G>T
ENST00000319332.9:c.1452+1G>T	ENSP00000316881.5:n.1452+1G>T
ENST00000427335.6:c.909+1G>T	ENSP00000408947.2:n.909+1G>T
NM_001134418.1:c.909+1G>T	NP_001127890.1:n.909+1G>T
NM_018192.3:c.1452+1G>T	NP_060662.2:n.1452+1G>T
XM_011512955.1:c.909+1G>T	XP_011511257.1:n.909+1G>T
NM_018192.4:c.1452+1G>T MANE Select	NP_060662.2:n.1452+1G>T
NM_001134418.2:c.909+1G>T	NP_001127890.1:n.909+1G>T