Canonical Allele Identifier: CA2704789274

Gene: P3H2

Linked Data

• dbSNP Id: rs1724015439

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995274G>A , CM000665.2:g.189995274G>A	GRCh38
NC_000003.11:g.189713063G>A , CM000665.1:g.189713063G>A	GRCh37
NC_000003.10:g.191195757G>A	NCBI36
NG_031929.1:g.132164C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000319332.10:c.633+16C>T MANE Select	ENSP00000316881.5:n.633+16C>T
ENST00000319332.9:c.633+16C>T	ENSP00000316881.5:n.633+16C>T
ENST00000426003.1:c.90+16C>T	ENSP00000394326.1:n.90+16C>T
ENST00000427335.6:c.90+16C>T	ENSP00000408947.2:n.90+16C>T
ENST00000444866.5:c.90+16C>T	ENSP00000391374.1:n.90+16C>T
NM_001134418.1:c.90+16C>T	NP_001127890.1:n.90+16C>T
NM_018192.3:c.633+16C>T	NP_060662.2:n.633+16C>T
XM_011512955.1:c.90+16C>T	XP_011511257.1:n.90+16C>T
NM_018192.4:c.633+16C>T MANE Select	NP_060662.2:n.633+16C>T
NM_001134418.2:c.90+16C>T	NP_001127890.1:n.90+16C>T