Canonical Allele Identifier: CA2753285

Gene: P3H2

Linked Data

• ClinVar Variation Id: 1168927
• ClinVar RCV Id: RCV001519577
• dbSNP Id: rs190084493
• ExAC: 3:189713065 C / G
• gnomAD v2: 3-189713065-C-G
• gnomAD v3: 3-189995276-C-G
• gnomAD v4: 3-189995276-C-G
• MyVariant Identifiers: chr3:g.189713065C>G (hg19) ; chr3:g.189995276C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995276C>G , CM000665.2:g.189995276C>G	GRCh38
NC_000003.11:g.189713065C>G , CM000665.1:g.189713065C>G	GRCh37
NC_000003.10:g.191195759C>G	NCBI36
NG_031929.1:g.132162G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.633+14G>C MANE Select	ENSP00000316881.5:n.633+14G>C
ENST00000319332.9:c.633+14G>C	ENSP00000316881.5:n.633+14G>C
ENST00000426003.1:c.90+14G>C	ENSP00000394326.1:n.90+14G>C
ENST00000427335.6:c.90+14G>C	ENSP00000408947.2:n.90+14G>C
ENST00000444866.5:c.90+14G>C	ENSP00000391374.1:n.90+14G>C
NM_001134418.1:c.90+14G>C	NP_001127890.1:n.90+14G>C
NM_018192.3:c.633+14G>C	NP_060662.2:n.633+14G>C
XM_011512955.1:c.90+14G>C	XP_011511257.1:n.90+14G>C
NM_018192.4:c.633+14G>C MANE Select	NP_060662.2:n.633+14G>C
NM_001134418.2:c.90+14G>C	NP_001127890.1:n.90+14G>C