Canonical Allele Identifier: CA355759936
Gene: P3H2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189995403A>T , CM000665.2:g.189995403A>T GRCh38
NC_000003.11:g.189713192A>T , CM000665.1:g.189713192A>T GRCh37
NC_000003.10:g.191195886A>T NCBI36
NG_031929.1:g.132035T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319332.10:c.520T>A MANE Select ENSP00000316881.5:p.Phe174Ile
ENST00000319332.9:c.520T>A ENSP00000316881.5:p.Phe174Ile
ENST00000426003.1:c.-24T>A ENSP00000394326.1:n.-24T>A
ENST00000427335.6:c.-24T>A ENSP00000408947.2:n.-24T>A
ENST00000444866.5:c.-24T>A ENSP00000391374.1:n.-24T>A
NM_001134418.1:c.-24T>A NP_001127890.1:n.-24T>A
NM_018192.3:c.520T>A NP_060662.2:p.Phe174Ile
XM_011512955.1:c.-24T>A XP_011511257.1:n.-24T>A
NM_018192.4:c.520T>A MANE Select NP_060662.2:p.Phe174Ile
NM_001134418.2:c.-24T>A NP_001127890.1:n.-24T>A