Canonical Allele Identifier: CA5412246
Gene: PHYH HGNC NCBI

Linked Data

dbSNP Id: rs760332267

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283772A>G , CM000672.2:g.13283772A>G GRCh38
NC_000010.10:g.13325772A>G , CM000672.1:g.13325772A>G GRCh37
NC_000010.9:g.13365778A>G NCBI36
NG_012862.1:g.21359T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263038.9:c.746T>C MANE Select ENSP00000263038.4:p.Val249Ala
ENST00000263038.8:c.746T>C ENSP00000263038.4:p.Val249Ala
ENST00000396913.6:c.446T>C ENSP00000380121.2:p.Val149Ala
ENST00000396920.7:c.695T>C ENSP00000380126.3:p.Val232Ala
ENST00000453759.6:c.446T>C ENSP00000412525.2:p.Val149Ala
NM_001037537.1:c.446T>C NP_001032626.1:p.Val149Ala
NM_006214.3:c.746T>C NP_006205.1:p.Val249Ala
XM_005252469.2:c.527T>C XP_005252526.1:p.Val176Ala
NM_001323080.1:c.446T>C NP_001310009.1:p.Val149Ala
NM_001323082.1:c.752T>C NP_001310011.1:p.Val251Ala
NM_001323083.1:c.482T>C NP_001310012.1:p.Val161Ala
NM_001323084.1:c.452T>C NP_001310013.1:p.Val151Ala
NM_006214.4:c.746T>C MANE Select NP_006205.1:p.Val249Ala
NM_001037537.2:c.446T>C NP_001032626.1:p.Val149Ala
NM_001323080.2:c.446T>C NP_001310009.1:p.Val149Ala
NM_001323082.2:c.752T>C NP_001310011.1:p.Val251Ala
NM_001323083.2:c.482T>C NP_001310012.1:p.Val161Ala
NM_001323084.2:c.452T>C NP_001310013.1:p.Val151Ala