Canonical Allele Identifier: CA355759966
Gene: P3H2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.189713209A>T (hg19) chr3:g.189995420A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189995420A>T , CM000665.2:g.189995420A>T GRCh38
NC_000003.11:g.189713209A>T , CM000665.1:g.189713209A>T GRCh37
NC_000003.10:g.191195903A>T NCBI36
NG_031929.1:g.132018T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319332.10:c.503T>A MANE Select ENSP00000316881.5:p.Val168Glu
ENST00000319332.9:c.503T>A ENSP00000316881.5:p.Val168Glu
ENST00000426003.1:c.-41T>A ENSP00000394326.1:n.-41T>A
ENST00000427335.6:c.-41T>A ENSP00000408947.2:n.-41T>A
ENST00000444866.5:c.-41T>A ENSP00000391374.1:n.-41T>A
NM_001134418.1:c.-41T>A NP_001127890.1:n.-41T>A
NM_018192.3:c.503T>A NP_060662.2:p.Val168Glu
XM_011512955.1:c.-41T>A XP_011511257.1:n.-41T>A
NM_018192.4:c.503T>A MANE Select NP_060662.2:p.Val168Glu
NM_001134418.2:c.-41T>A NP_001127890.1:n.-41T>A
Search 100 bp 5'
Search 100 bp 3'