Canonical Allele Identifier: CA1428574882
Gene: P3H2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189995411G= , CM000665.2:g.189995411G= GRCh38
NC_000003.11:g.189713200G= , CM000665.1:g.189713200G= GRCh37
NC_000003.10:g.191195894G= NCBI36
NG_031929.1:g.132027C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000319332.10:c.512C= MANE Select ENSP00000316881.5:p.Ala171=
ENST00000319332.9:c.512C= ENSP00000316881.5:p.Ala171=
ENST00000426003.1:c.-32C= ENSP00000394326.1:n.-32C=
ENST00000427335.6:c.-32C= ENSP00000408947.2:n.-32C=
ENST00000444866.5:c.-32C= ENSP00000391374.1:n.-32C=
NM_001134418.1:c.-32C= NP_001127890.1:n.-32C=
NM_018192.3:c.512C= NP_060662.2:p.Ala171=
XM_011512955.1:c.-32C= XP_011511257.1:n.-32C=
NM_018192.4:c.512C= MANE Select NP_060662.2:p.Ala171=
NM_001134418.2:c.-32C= NP_001127890.1:n.-32C=