Canonical Allele Identifier: CA376034053
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283698A>C , CM000672.2:g.13283698A>C GRCh38
NC_000010.10:g.13325698A>C , CM000672.1:g.13325698A>C GRCh37
NC_000010.9:g.13365704A>C NCBI36
NG_012862.1:g.21433T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.820T>G MANE Select ENSP00000263038.4:p.Phe274Val
ENST00000263038.8:c.820T>G ENSP00000263038.4:p.Phe274Val
ENST00000396913.6:c.520T>G ENSP00000380121.2:p.Phe174Val
ENST00000396920.7:c.769T>G ENSP00000380126.3:p.Phe257Val
ENST00000453759.6:c.520T>G ENSP00000412525.2:p.Phe174Val
NM_001037537.1:c.520T>G NP_001032626.1:p.Phe174Val
NM_006214.3:c.820T>G NP_006205.1:p.Phe274Val
XM_005252469.2:c.601T>G XP_005252526.1:p.Phe201Val
NM_001323080.1:c.520T>G NP_001310009.1:p.Phe174Val
NM_001323082.1:c.826T>G NP_001310011.1:p.Phe276Val
NM_001323083.1:c.556T>G NP_001310012.1:p.Phe186Val
NM_001323084.1:c.526T>G NP_001310013.1:p.Phe176Val
NM_006214.4:c.820T>G MANE Select NP_006205.1:p.Phe274Val
NM_001037537.2:c.520T>G NP_001032626.1:p.Phe174Val
NM_001323080.2:c.520T>G NP_001310009.1:p.Phe174Val
NM_001323082.2:c.826T>G NP_001310011.1:p.Phe276Val
NM_001323083.2:c.556T>G NP_001310012.1:p.Phe186Val
NM_001323084.2:c.526T>G NP_001310013.1:p.Phe176Val