Canonical Allele Identifier: CA1057647220

Gene: P3H2

Linked Data

• dbSNP Id: rs1724027525
• gnomAD v3: 3-189995521-A-T
• gnomAD v4: 3-189995521-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995521A>T , CM000665.2:g.189995521A>T	GRCh38
NC_000003.11:g.189713310A>T , CM000665.1:g.189713310A>T	GRCh37
NC_000003.10:g.191196004A>T	NCBI36
NG_031929.1:g.131917T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-79T>A MANE Select	ENSP00000316881.5:n.481-79T>A
ENST00000319332.9:c.481-79T>A	ENSP00000316881.5:n.481-79T>A
ENST00000426003.1:c.-63-79T>A	ENSP00000394326.1:n.-63-79T>A
ENST00000427335.6:c.-63-79T>A	ENSP00000408947.2:n.-63-79T>A
ENST00000444866.5:c.-63-79T>A	ENSP00000391374.1:n.-63-79T>A
NM_001134418.1:c.-63-79T>A	NP_001127890.1:n.-63-79T>A
NM_018192.3:c.481-79T>A	NP_060662.2:n.481-79T>A
XM_011512955.1:c.-63-79T>A	XP_011511257.1:n.-63-79T>A
NM_018192.4:c.481-79T>A MANE Select	NP_060662.2:n.481-79T>A
NM_001134418.2:c.-63-79T>A	NP_001127890.1:n.-63-79T>A