Canonical Allele Identifier: CA2753310

Gene: P3H2

Linked Data

• ClinVar Variation Id: 1419714
• ClinVar RCV Id: RCV001910567 ; RCV004044028
• dbSNP Id: rs150007134
• ExAC: 3:189713168 T / C
• gnomAD v2: 3-189713168-T-C
• gnomAD v3: 3-189995379-T-C
• gnomAD v4: 3-189995379-T-C
• MyVariant Identifiers: chr3:g.189713168T>C (hg19) ; chr3:g.189995379T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.189995379T>C , CM000665.2:g.189995379T>C	GRCh38
NC_000003.11:g.189713168T>C , CM000665.1:g.189713168T>C	GRCh37
NC_000003.10:g.191195862T>C	NCBI36
NG_031929.1:g.132059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000319332.10:c.544A>G MANE Select	ENSP00000316881.5:p.Met182Val
ENST00000319332.9:c.544A>G	ENSP00000316881.5:p.Met182Val
ENST00000426003.1:c.1A>G	ENSP00000394326.1:p.Met1Val
ENST00000427335.6:c.1A>G	ENSP00000408947.2:p.Met1Val
ENST00000444866.5:c.1A>G	ENSP00000391374.1:p.Met1Val
NM_001134418.1:c.1A>G	NP_001127890.1:p.Met1Val
NM_018192.3:c.544A>G	NP_060662.2:p.Met182Val
XM_011512955.1:c.1A>G	XP_011511257.1:p.Met1Val
NM_018192.4:c.544A>G MANE Select	NP_060662.2:p.Met182Val
NM_001134418.2:c.1A>G	NP_001127890.1:p.Met1Val