Canonical Allele Identifier: CA376034107
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283722A>C , CM000672.2:g.13283722A>C GRCh38
NC_000010.10:g.13325722A>C , CM000672.1:g.13325722A>C GRCh37
NC_000010.9:g.13365728A>C NCBI36
NG_012862.1:g.21409T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.796T>G MANE Select ENSP00000263038.4:p.Ser266Ala
ENST00000263038.8:c.796T>G ENSP00000263038.4:p.Ser266Ala
ENST00000396913.6:c.496T>G ENSP00000380121.2:p.Ser166Ala
ENST00000396920.7:c.745T>G ENSP00000380126.3:p.Ser249Ala
ENST00000453759.6:c.496T>G ENSP00000412525.2:p.Ser166Ala
NM_001037537.1:c.496T>G NP_001032626.1:p.Ser166Ala
NM_006214.3:c.796T>G NP_006205.1:p.Ser266Ala
XM_005252469.2:c.577T>G XP_005252526.1:p.Ser193Ala
NM_001323080.1:c.496T>G NP_001310009.1:p.Ser166Ala
NM_001323082.1:c.802T>G NP_001310011.1:p.Ser268Ala
NM_001323083.1:c.532T>G NP_001310012.1:p.Ser178Ala
NM_001323084.1:c.502T>G NP_001310013.1:p.Ser168Ala
NM_006214.4:c.796T>G MANE Select NP_006205.1:p.Ser266Ala
NM_001037537.2:c.496T>G NP_001032626.1:p.Ser166Ala
NM_001323080.2:c.496T>G NP_001310009.1:p.Ser166Ala
NM_001323082.2:c.802T>G NP_001310011.1:p.Ser268Ala
NM_001323083.2:c.532T>G NP_001310012.1:p.Ser178Ala
NM_001323084.2:c.502T>G NP_001310013.1:p.Ser168Ala