Canonical Allele Identifier: CA118908
Gene: PHYH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7588
ClinVar RCV Id: RCV000008026
dbSNP Id: rs104894174

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283694C>T , CM000672.2:g.13283694C>T GRCh38
NC_000010.10:g.13325694C>T , CM000672.1:g.13325694C>T GRCh37
NC_000010.9:g.13365700C>T NCBI36
NG_012862.1:g.21437G>A

Transcript Alleles

HGVS Amino-acid change
NM_001037537.1:c.524G>A VV NP_001032626.1:p.Arg175Gln
NM_006214.3:c.824G>A VV NP_006205.1:p.Arg275Gln
XM_005252469.2:c.605G>A XP_005252526.1:p.Arg202Gln
NM_001323080.1:c.524G>A VV NP_001310009.1:p.Arg175Gln
NM_001323082.1:c.830G>A VV NP_001310011.1:p.Arg277Gln
NM_001323083.1:c.560G>A VV NP_001310012.1:p.Arg187Gln
NM_001323084.1:c.530G>A VV NP_001310013.1:p.Arg177Gln
NM_006214.4:c.824G>A VV MANE Preferred NP_006205.1:p.Arg275Gln
ENST00000263038.8:c.824G>A ENSP00000263038.4:p.Arg275Gln
ENST00000396913.6:c.524G>A ENSP00000380121.2:p.Arg175Gln
ENST00000396920.7:c.773G>A ENSP00000380126.3:p.Arg258Gln
ENST00000453759.6:c.524G>A ENSP00000412525.2:p.Arg175Gln