Canonical Allele Identifier: CA376034115
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283726G>T , CM000672.2:g.13283726G>T GRCh38
NC_000010.10:g.13325726G>T , CM000672.1:g.13325726G>T GRCh37
NC_000010.9:g.13365732G>T NCBI36
NG_012862.1:g.21405C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.792C>A MANE Select ENSP00000263038.4:p.His264Gln
ENST00000263038.8:c.792C>A ENSP00000263038.4:p.His264Gln
ENST00000396913.6:c.492C>A ENSP00000380121.2:p.His164Gln
ENST00000396920.7:c.741C>A ENSP00000380126.3:p.His247Gln
ENST00000453759.6:c.492C>A ENSP00000412525.2:p.His164Gln
NM_001037537.1:c.492C>A NP_001032626.1:p.His164Gln
NM_006214.3:c.792C>A NP_006205.1:p.His264Gln
XM_005252469.2:c.573C>A XP_005252526.1:p.His191Gln
NM_001323080.1:c.492C>A NP_001310009.1:p.His164Gln
NM_001323082.1:c.798C>A NP_001310011.1:p.His266Gln
NM_001323083.1:c.528C>A NP_001310012.1:p.His176Gln
NM_001323084.1:c.498C>A NP_001310013.1:p.His166Gln
NM_006214.4:c.792C>A MANE Select NP_006205.1:p.His264Gln
NM_001037537.2:c.492C>A NP_001032626.1:p.His164Gln
NM_001323080.2:c.492C>A NP_001310009.1:p.His164Gln
NM_001323082.2:c.798C>A NP_001310011.1:p.His266Gln
NM_001323083.2:c.528C>A NP_001310012.1:p.His176Gln
NM_001323084.2:c.498C>A NP_001310013.1:p.His166Gln