Canonical Allele Identifier: CA355759864

Gene: P3H2

Linked Data

• dbSNP Id: rs1205223933
• gnomAD v2: 3-189713161-A-C
• gnomAD v4: 3-189995372-A-C
• MyVariant Identifiers: chr3:g.189713161A>C (hg19) ; chr3:g.189995372A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995372A>C , CM000665.2:g.189995372A>C	GRCh38
NC_000003.11:g.189713161A>C , CM000665.1:g.189713161A>C	GRCh37
NC_000003.10:g.191195855A>C	NCBI36
NG_031929.1:g.132066T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.551T>G MANE Select	ENSP00000316881.5:p.Met184Arg
ENST00000319332.9:c.551T>G	ENSP00000316881.5:p.Met184Arg
ENST00000426003.1:c.8T>G	ENSP00000394326.1:p.Met3Arg
ENST00000427335.6:c.8T>G	ENSP00000408947.2:p.Met3Arg
ENST00000444866.5:c.8T>G	ENSP00000391374.1:p.Met3Arg
NM_001134418.1:c.8T>G	NP_001127890.1:p.Met3Arg
NM_018192.3:c.551T>G	NP_060662.2:p.Met184Arg
XM_011512955.1:c.8T>G	XP_011511257.1:p.Met3Arg
NM_018192.4:c.551T>G MANE Select	NP_060662.2:p.Met184Arg
NM_001134418.2:c.8T>G	NP_001127890.1:p.Met3Arg