Canonical Allele Identifier: CA376034177
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283754G>A , CM000672.2:g.13283754G>A GRCh38
NC_000010.10:g.13325754G>A , CM000672.1:g.13325754G>A GRCh37
NC_000010.9:g.13365760G>A NCBI36
NG_012862.1:g.21377C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.764C>T MANE Select ENSP00000263038.4:p.Thr255Ile
ENST00000263038.8:c.764C>T ENSP00000263038.4:p.Thr255Ile
ENST00000396913.6:c.464C>T ENSP00000380121.2:p.Thr155Ile
ENST00000396920.7:c.713C>T ENSP00000380126.3:p.Thr238Ile
ENST00000453759.6:c.464C>T ENSP00000412525.2:p.Thr155Ile
NM_001037537.1:c.464C>T NP_001032626.1:p.Thr155Ile
NM_006214.3:c.764C>T NP_006205.1:p.Thr255Ile
XM_005252469.2:c.545C>T XP_005252526.1:p.Thr182Ile
NM_001323080.1:c.464C>T NP_001310009.1:p.Thr155Ile
NM_001323082.1:c.770C>T NP_001310011.1:p.Thr257Ile
NM_001323083.1:c.500C>T NP_001310012.1:p.Thr167Ile
NM_001323084.1:c.470C>T NP_001310013.1:p.Thr157Ile
NM_006214.4:c.764C>T MANE Select NP_006205.1:p.Thr255Ile
NM_001037537.2:c.464C>T NP_001032626.1:p.Thr155Ile
NM_001323080.2:c.464C>T NP_001310009.1:p.Thr155Ile
NM_001323082.2:c.770C>T NP_001310011.1:p.Thr257Ile
NM_001323083.2:c.500C>T NP_001310012.1:p.Thr167Ile
NM_001323084.2:c.470C>T NP_001310013.1:p.Thr157Ile