Canonical Allele Identifier: CA355759863

Gene: P3H2

Linked Data

• MyVariant Identifiers: chr3:g.189713160C>T (hg19) ; chr3:g.189995371C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995371C>T , CM000665.2:g.189995371C>T	GRCh38
NC_000003.11:g.189713160C>T , CM000665.1:g.189713160C>T	GRCh37
NC_000003.10:g.191195854C>T	NCBI36
NG_031929.1:g.132067G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.552G>A MANE Select	ENSP00000316881.5:p.Met184Ile
ENST00000319332.9:c.552G>A	ENSP00000316881.5:p.Met184Ile
ENST00000426003.1:c.9G>A	ENSP00000394326.1:p.Met3Ile
ENST00000427335.6:c.9G>A	ENSP00000408947.2:p.Met3Ile
ENST00000444866.5:c.9G>A	ENSP00000391374.1:p.Met3Ile
NM_001134418.1:c.9G>A	NP_001127890.1:p.Met3Ile
NM_018192.3:c.552G>A	NP_060662.2:p.Met184Ile
XM_011512955.1:c.9G>A	XP_011511257.1:p.Met3Ile
NM_018192.4:c.552G>A MANE Select	NP_060662.2:p.Met184Ile
NM_001134418.2:c.9G>A	NP_001127890.1:p.Met3Ile