Canonical Allele Identifier: CA355759865
Gene: P3H2 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000319332.10:c.551T>C MANE Select ENSP00000316881.5:p.Met184Thr
ENST00000319332.9:c.551T>C ENSP00000316881.5:p.Met184Thr
ENST00000426003.1:c.8T>C ENSP00000394326.1:p.Met3Thr
ENST00000427335.6:c.8T>C ENSP00000408947.2:p.Met3Thr
ENST00000444866.5:c.8T>C ENSP00000391374.1:p.Met3Thr
NM_001134418.1:c.8T>C NP_001127890.1:p.Met3Thr
NM_018192.3:c.551T>C NP_060662.2:p.Met184Thr
XM_011512955.1:c.8T>C XP_011511257.1:p.Met3Thr
NM_018192.4:c.551T>C MANE Select NP_060662.2:p.Met184Thr
NM_001134418.2:c.8T>C NP_001127890.1:p.Met3Thr