Canonical Allele Identifier: CA376034180
Gene: PHYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283755T>C , CM000672.2:g.13283755T>C GRCh38
NC_000010.10:g.13325755T>C , CM000672.1:g.13325755T>C GRCh37
NC_000010.9:g.13365761T>C NCBI36
NG_012862.1:g.21376A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.763A>G MANE Select ENSP00000263038.4:p.Thr255Ala
ENST00000263038.8:c.763A>G ENSP00000263038.4:p.Thr255Ala
ENST00000396913.6:c.463A>G ENSP00000380121.2:p.Thr155Ala
ENST00000396920.7:c.712A>G ENSP00000380126.3:p.Thr238Ala
ENST00000453759.6:c.463A>G ENSP00000412525.2:p.Thr155Ala
NM_001037537.1:c.463A>G NP_001032626.1:p.Thr155Ala
NM_006214.3:c.763A>G NP_006205.1:p.Thr255Ala
XM_005252469.2:c.544A>G XP_005252526.1:p.Thr182Ala
NM_001323080.1:c.463A>G NP_001310009.1:p.Thr155Ala
NM_001323082.1:c.769A>G NP_001310011.1:p.Thr257Ala
NM_001323083.1:c.499A>G NP_001310012.1:p.Thr167Ala
NM_001323084.1:c.469A>G NP_001310013.1:p.Thr157Ala
NM_006214.4:c.763A>G MANE Select NP_006205.1:p.Thr255Ala
NM_001037537.2:c.463A>G NP_001032626.1:p.Thr155Ala
NM_001323080.2:c.463A>G NP_001310009.1:p.Thr155Ala
NM_001323082.2:c.769A>G NP_001310011.1:p.Thr257Ala
NM_001323083.2:c.499A>G NP_001310012.1:p.Thr167Ala
NM_001323084.2:c.469A>G NP_001310013.1:p.Thr157Ala