Canonical Allele Identifier: CA376034204
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283766T>A , CM000672.2:g.13283766T>A GRCh38
NC_000010.10:g.13325766T>A , CM000672.1:g.13325766T>A GRCh37
NC_000010.9:g.13365772T>A NCBI36
NG_012862.1:g.21365A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.752A>T MANE Select ENSP00000263038.4:p.Glu251Val
ENST00000263038.8:c.752A>T ENSP00000263038.4:p.Glu251Val
ENST00000396913.6:c.452A>T ENSP00000380121.2:p.Glu151Val
ENST00000396920.7:c.701A>T ENSP00000380126.3:p.Glu234Val
ENST00000453759.6:c.452A>T ENSP00000412525.2:p.Glu151Val
NM_001037537.1:c.452A>T NP_001032626.1:p.Glu151Val
NM_006214.3:c.752A>T NP_006205.1:p.Glu251Val
XM_005252469.2:c.533A>T XP_005252526.1:p.Glu178Val
NM_001323080.1:c.452A>T NP_001310009.1:p.Glu151Val
NM_001323082.1:c.758A>T NP_001310011.1:p.Glu253Val
NM_001323083.1:c.488A>T NP_001310012.1:p.Glu163Val
NM_001323084.1:c.458A>T NP_001310013.1:p.Glu153Val
NM_006214.4:c.752A>T MANE Select NP_006205.1:p.Glu251Val
NM_001037537.2:c.452A>T NP_001032626.1:p.Glu151Val
NM_001323080.2:c.452A>T NP_001310009.1:p.Glu151Val
NM_001323082.2:c.758A>T NP_001310011.1:p.Glu253Val
NM_001323083.2:c.488A>T NP_001310012.1:p.Glu163Val
NM_001323084.2:c.458A>T NP_001310013.1:p.Glu153Val