Canonical Allele Identifier: CA1428575433

Gene: P3H2

Linked Data

• dbSNP Id: rs1724033632

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995654dup , CM000665.2:g.189995654dup	GRCh38
NC_000003.11:g.189713443dup , CM000665.1:g.189713443dup	GRCh37
NC_000003.10:g.191196137dup	NCBI36
NG_031929.1:g.131784dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.481-212dup MANE Select	ENSP00000316881.5:n.481-212dup
ENST00000319332.9:c.481-212dup	ENSP00000316881.5:n.481-212dup
ENST00000426003.1:c.-63-212dup	ENSP00000394326.1:n.-63-212dup
ENST00000427335.6:c.-63-212dup	ENSP00000408947.2:n.-63-212dup
ENST00000444866.5:c.-63-212dup	ENSP00000391374.1:n.-63-212dup
NM_001134418.1:c.-63-212dup	NP_001127890.1:n.-63-212dup
NM_018192.3:c.481-212dup	NP_060662.2:n.481-212dup
XM_011512955.1:c.-63-212dup	XP_011511257.1:n.-63-212dup
NM_018192.4:c.481-212dup MANE Select	NP_060662.2:n.481-212dup
NM_001134418.2:c.-63-212dup	NP_001127890.1:n.-63-212dup