Canonical Allele Identifier: CA376034190
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283760C>G , CM000672.2:g.13283760C>G GRCh38
NC_000010.10:g.13325760C>G , CM000672.1:g.13325760C>G GRCh37
NC_000010.9:g.13365766C>G NCBI36
NG_012862.1:g.21371G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.758G>C MANE Select ENSP00000263038.4:p.Gly253Ala
ENST00000263038.8:c.758G>C ENSP00000263038.4:p.Gly253Ala
ENST00000396913.6:c.458G>C ENSP00000380121.2:p.Gly153Ala
ENST00000396920.7:c.707G>C ENSP00000380126.3:p.Gly236Ala
ENST00000453759.6:c.458G>C ENSP00000412525.2:p.Gly153Ala
NM_001037537.1:c.458G>C NP_001032626.1:p.Gly153Ala
NM_006214.3:c.758G>C NP_006205.1:p.Gly253Ala
XM_005252469.2:c.539G>C XP_005252526.1:p.Gly180Ala
NM_001323080.1:c.458G>C NP_001310009.1:p.Gly153Ala
NM_001323082.1:c.764G>C NP_001310011.1:p.Gly255Ala
NM_001323083.1:c.494G>C NP_001310012.1:p.Gly165Ala
NM_001323084.1:c.464G>C NP_001310013.1:p.Gly155Ala
NM_006214.4:c.758G>C MANE Select NP_006205.1:p.Gly253Ala
NM_001037537.2:c.458G>C NP_001032626.1:p.Gly153Ala
NM_001323080.2:c.458G>C NP_001310009.1:p.Gly153Ala
NM_001323082.2:c.764G>C NP_001310011.1:p.Gly255Ala
NM_001323083.2:c.494G>C NP_001310012.1:p.Gly165Ala
NM_001323084.2:c.464G>C NP_001310013.1:p.Gly155Ala