Canonical Allele Identifier: CA2669049781

Gene: P3H2

Linked Data

• gnomAD v4: 3-189995281-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995281A>C , CM000665.2:g.189995281A>C	GRCh38
NC_000003.11:g.189713070A>C , CM000665.1:g.189713070A>C	GRCh37
NC_000003.10:g.191195764A>C	NCBI36
NG_031929.1:g.132157T>G

Transcript Alleles

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