Canonical Allele Identifier: CA355759965

Gene: P3H2

Linked Data

• MyVariant Identifiers: chr3:g.189713207C>T (hg19) ; chr3:g.189995418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995418C>T , CM000665.2:g.189995418C>T	GRCh38
NC_000003.11:g.189713207C>T , CM000665.1:g.189713207C>T	GRCh37
NC_000003.10:g.191195901C>T	NCBI36
NG_031929.1:g.132020G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.505G>A MANE Select	ENSP00000316881.5:p.Glu169Lys
ENST00000319332.9:c.505G>A	ENSP00000316881.5:p.Glu169Lys
ENST00000426003.1:c.-39G>A	ENSP00000394326.1:n.-39G>A
ENST00000427335.6:c.-39G>A	ENSP00000408947.2:n.-39G>A
ENST00000444866.5:c.-39G>A	ENSP00000391374.1:n.-39G>A
NM_001134418.1:c.-39G>A	NP_001127890.1:n.-39G>A
NM_018192.3:c.505G>A	NP_060662.2:p.Glu169Lys
XM_011512955.1:c.-39G>A	XP_011511257.1:n.-39G>A
NM_018192.4:c.505G>A MANE Select	NP_060662.2:p.Glu169Lys
NM_001134418.2:c.-39G>A	NP_001127890.1:n.-39G>A