Canonical Allele Identifier: CA376034153
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283743G>C , CM000672.2:g.13283743G>C GRCh38
NC_000010.10:g.13325743G>C , CM000672.1:g.13325743G>C GRCh37
NC_000010.9:g.13365749G>C NCBI36
NG_012862.1:g.21388C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.775C>G MANE Select ENSP00000263038.4:p.His259Asp
ENST00000263038.8:c.775C>G ENSP00000263038.4:p.His259Asp
ENST00000396913.6:c.475C>G ENSP00000380121.2:p.His159Asp
ENST00000396920.7:c.724C>G ENSP00000380126.3:p.His242Asp
ENST00000453759.6:c.475C>G ENSP00000412525.2:p.His159Asp
NM_001037537.1:c.475C>G NP_001032626.1:p.His159Asp
NM_006214.3:c.775C>G NP_006205.1:p.His259Asp
XM_005252469.2:c.556C>G XP_005252526.1:p.His186Asp
NM_001323080.1:c.475C>G NP_001310009.1:p.His159Asp
NM_001323082.1:c.781C>G NP_001310011.1:p.His261Asp
NM_001323083.1:c.511C>G NP_001310012.1:p.His171Asp
NM_001323084.1:c.481C>G NP_001310013.1:p.His161Asp
NM_006214.4:c.775C>G MANE Select NP_006205.1:p.His259Asp
NM_001037537.2:c.475C>G NP_001032626.1:p.His159Asp
NM_001323080.2:c.475C>G NP_001310009.1:p.His159Asp
NM_001323082.2:c.781C>G NP_001310011.1:p.His261Asp
NM_001323083.2:c.511C>G NP_001310012.1:p.His171Asp
NM_001323084.2:c.481C>G NP_001310013.1:p.His161Asp