Canonical Allele Identifier: CA355759947
Gene: P3H2 HGNC NCBI

Linked Data

ClinVar Variation Id: 943517
ClinVar RCV Id: RCV001213718
dbSNP Id: rs1560354033

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.189995409G>C , CM000665.2:g.189995409G>C GRCh38
NC_000003.11:g.189713198G>C , CM000665.1:g.189713198G>C GRCh37
NC_000003.10:g.191195892G>C NCBI36
NG_031929.1:g.132029C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319332.10:c.514C>G MANE Select ENSP00000316881.5:p.His172Asp
ENST00000319332.9:c.514C>G ENSP00000316881.5:p.His172Asp
ENST00000426003.1:c.-30C>G ENSP00000394326.1:n.-30C>G
ENST00000427335.6:c.-30C>G ENSP00000408947.2:n.-30C>G
ENST00000444866.5:c.-30C>G ENSP00000391374.1:n.-30C>G
NM_001134418.1:c.-30C>G NP_001127890.1:n.-30C>G
NM_018192.3:c.514C>G NP_060662.2:p.His172Asp
XM_011512955.1:c.-30C>G XP_011511257.1:n.-30C>G
NM_018192.4:c.514C>G MANE Select NP_060662.2:p.His172Asp
NM_001134418.2:c.-30C>G NP_001127890.1:n.-30C>G