Canonical Allele Identifier: CA376034183
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283756G>T , CM000672.2:g.13283756G>T GRCh38
NC_000010.10:g.13325756G>T , CM000672.1:g.13325756G>T GRCh37
NC_000010.9:g.13365762G>T NCBI36
NG_012862.1:g.21375C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.762C>A MANE Select ENSP00000263038.4:p.Asp254Glu
ENST00000263038.8:c.762C>A ENSP00000263038.4:p.Asp254Glu
ENST00000396913.6:c.462C>A ENSP00000380121.2:p.Asp154Glu
ENST00000396920.7:c.711C>A ENSP00000380126.3:p.Asp237Glu
ENST00000453759.6:c.462C>A ENSP00000412525.2:p.Asp154Glu
NM_001037537.1:c.462C>A NP_001032626.1:p.Asp154Glu
NM_006214.3:c.762C>A NP_006205.1:p.Asp254Glu
XM_005252469.2:c.543C>A XP_005252526.1:p.Asp181Glu
NM_001323080.1:c.462C>A NP_001310009.1:p.Asp154Glu
NM_001323082.1:c.768C>A NP_001310011.1:p.Asp256Glu
NM_001323083.1:c.498C>A NP_001310012.1:p.Asp166Glu
NM_001323084.1:c.468C>A NP_001310013.1:p.Asp156Glu
NM_006214.4:c.762C>A MANE Select NP_006205.1:p.Asp254Glu
NM_001037537.2:c.462C>A NP_001032626.1:p.Asp154Glu
NM_001323080.2:c.462C>A NP_001310009.1:p.Asp154Glu
NM_001323082.2:c.768C>A NP_001310011.1:p.Asp256Glu
NM_001323083.2:c.498C>A NP_001310012.1:p.Asp166Glu
NM_001323084.2:c.468C>A NP_001310013.1:p.Asp156Glu