Canonical Allele Identifier: CA376034325
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283793T>G , CM000672.2:g.13283793T>G GRCh38
NC_000010.10:g.13325793T>G , CM000672.1:g.13325793T>G GRCh37
NC_000010.9:g.13365799T>G NCBI36
NG_012862.1:g.21338A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.725A>C MANE Select ENSP00000263038.4:p.Asn242Thr
ENST00000263038.8:c.725A>C ENSP00000263038.4:p.Asn242Thr
ENST00000396913.6:c.425A>C ENSP00000380121.2:p.Asn142Thr
ENST00000396920.7:c.674A>C ENSP00000380126.3:p.Asn225Thr
ENST00000453759.6:c.425A>C ENSP00000412525.2:p.Asn142Thr
NM_001037537.1:c.425A>C NP_001032626.1:p.Asn142Thr
NM_006214.3:c.725A>C NP_006205.1:p.Asn242Thr
XM_005252469.2:c.506A>C XP_005252526.1:p.Asn169Thr
NM_001323080.1:c.425A>C NP_001310009.1:p.Asn142Thr
NM_001323082.1:c.731A>C NP_001310011.1:p.Asn244Thr
NM_001323083.1:c.461A>C NP_001310012.1:p.Asn154Thr
NM_001323084.1:c.431A>C NP_001310013.1:p.Asn144Thr
NM_006214.4:c.725A>C MANE Select NP_006205.1:p.Asn242Thr
NM_001037537.2:c.425A>C NP_001032626.1:p.Asn142Thr
NM_001323080.2:c.425A>C NP_001310009.1:p.Asn142Thr
NM_001323082.2:c.731A>C NP_001310011.1:p.Asn244Thr
NM_001323083.2:c.461A>C NP_001310012.1:p.Asn154Thr
NM_001323084.2:c.431A>C NP_001310013.1:p.Asn144Thr