Canonical Allele Identifier: CA5412483
Gene: PHYH HGNC NCBI

Linked Data

ClinVar Variation Id: 299260
dbSNP Id: rs150631501

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13298195T>C , CM000672.2:g.13298195T>C GRCh38
NC_000010.10:g.13340195T>C , CM000672.1:g.13340195T>C GRCh37
NC_000010.9:g.13380201T>C NCBI36
NG_012862.1:g.6936A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000263038.9:c.126A>G MANE Select ENSP00000263038.4:p.Gln42=
ENST00000263038.8:c.126A>G ENSP00000263038.4:p.Gln42=
ENST00000396913.6:c.-167+1225A>G ENSP00000380121.2:p.=
ENST00000396920.7:c.69A>G ENSP00000380126.3:p.Gln23=
ENST00000453759.6:c.-175A>G ENSP00000412525.2:p.=
ENST00000463730.1:n.181A>G
ENST00000479604.1:c.126A>G ENSP00000420117.1:p.Gln42=
NM_001037537.1:c.-167+1225A>G NP_001032626.1:p.=
NM_006214.3:c.126A>G NP_006205.1:p.Gln42=
XM_005252469.2:c.171A>G XP_005252526.1:p.Gln57=
NM_001323080.1:c.-175A>G NP_001310009.1:p.=
NM_001323082.1:c.126A>G NP_001310011.1:p.Gln42=
NM_001323083.1:c.126A>G NP_001310012.1:p.Gln42=
NM_001323084.1:c.-167+1225A>G NP_001310013.1:p.=
NM_006214.4:c.126A>G MANE Select NP_006205.1:p.Gln42=
NM_001037537.2:c.-167+1225A>G NP_001032626.1:p.=
NM_001323080.2:c.-175A>G NP_001310009.1:p.=
NM_001323082.2:c.126A>G NP_001310011.1:p.Gln42=
NM_001323083.2:c.126A>G NP_001310012.1:p.Gln42=
NM_001323084.2:c.-167+1225A>G NP_001310013.1:p.=