Canonical Allele Identifier: CA355759813
Gene: P3H2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189995351T>A , CM000665.2:g.189995351T>A GRCh38
NC_000003.11:g.189713140T>A , CM000665.1:g.189713140T>A GRCh37
NC_000003.10:g.191195834T>A NCBI36
NG_031929.1:g.132087A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319332.10:c.572A>T MANE Select ENSP00000316881.5:p.Tyr191Phe
ENST00000319332.9:c.572A>T ENSP00000316881.5:p.Tyr191Phe
ENST00000426003.1:c.29A>T ENSP00000394326.1:p.Tyr10Phe
ENST00000427335.6:c.29A>T ENSP00000408947.2:p.Tyr10Phe
ENST00000444866.5:c.29A>T ENSP00000391374.1:p.Tyr10Phe
NM_001134418.1:c.29A>T NP_001127890.1:p.Tyr10Phe
NM_018192.3:c.572A>T NP_060662.2:p.Tyr191Phe
XM_011512955.1:c.29A>T XP_011511257.1:p.Tyr10Phe
NM_018192.4:c.572A>T MANE Select NP_060662.2:p.Tyr191Phe
NM_001134418.2:c.29A>T NP_001127890.1:p.Tyr10Phe