Canonical Allele Identifier: CA437418308

Gene: P3H2

Linked Data

• MyVariant Identifiers: chr3:g.189713188_189713189insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995399_189995400insT , CM000665.2:g.189995399_189995400insT	GRCh38
NC_000003.11:g.189713188_189713189insT , CM000665.1:g.189713188_189713189insT	GRCh37
NC_000003.10:g.191195882_191195883insT	NCBI36
NG_031929.1:g.132038_132039insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.523_524insA MANE Select	ENSP00000316881.5:p.Phe175TyrfsTer4
ENST00000319332.9:c.523_524insA	ENSP00000316881.5:p.Phe175TyrfsTer4
ENST00000426003.1:c.-21_-20insA	ENSP00000394326.1:n.-21_-20insA
ENST00000427335.6:c.-21_-20insA	ENSP00000408947.2:n.-21_-20insA
ENST00000444866.5:c.-21_-20insA	ENSP00000391374.1:n.-21_-20insA
NM_001134418.1:c.-21_-20insA	NP_001127890.1:n.-21_-20insA
NM_018192.3:c.523_524insA	NP_060662.2:p.Phe175TyrfsTer4
XM_011512955.1:c.-21_-20insA	XP_011511257.1:n.-21_-20insA
NM_018192.4:c.523_524insA MANE Select	NP_060662.2:p.Phe175TyrfsTer4
NM_001134418.2:c.-21_-20insA	NP_001127890.1:n.-21_-20insA