Canonical Allele Identifier: CA355759807

Gene: P3H2

Linked Data

• ClinVar Variation Id: 1719103
• ClinVar RCV Id: RCV002301863
• gnomAD v4: 3-189995348-C-G
• MyVariant Identifiers: chr3:g.189713137C>G (hg19) ; chr3:g.189995348C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995348C>G , CM000665.2:g.189995348C>G	GRCh38
NC_000003.11:g.189713137C>G , CM000665.1:g.189713137C>G	GRCh37
NC_000003.10:g.191195831C>G	NCBI36
NG_031929.1:g.132090G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.575G>C MANE Select	ENSP00000316881.5:p.Arg192Thr
ENST00000319332.9:c.575G>C	ENSP00000316881.5:p.Arg192Thr
ENST00000426003.1:c.32G>C	ENSP00000394326.1:p.Arg11Thr
ENST00000427335.6:c.32G>C	ENSP00000408947.2:p.Arg11Thr
ENST00000444866.5:c.32G>C	ENSP00000391374.1:p.Arg11Thr
NM_001134418.1:c.32G>C	NP_001127890.1:p.Arg11Thr
NM_018192.3:c.575G>C	NP_060662.2:p.Arg192Thr
XM_011512955.1:c.32G>C	XP_011511257.1:p.Arg11Thr
NM_018192.4:c.575G>C MANE Select	NP_060662.2:p.Arg192Thr
NM_001134418.2:c.32G>C	NP_001127890.1:p.Arg11Thr