Canonical Allele Identifier: CA118905
Gene: PHYH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7584
ClinVar RCV Id: RCV000008022
dbSNP Id: rs104894179

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13283713T>G , CM000672.2:g.13283713T>G GRCh38
NC_000010.10:g.13325713T>G , CM000672.1:g.13325713T>G GRCh37
NC_000010.9:g.13365719T>G NCBI36
NG_012862.1:g.21418A>C

Transcript Alleles

HGVS Amino-acid change
NM_001037537.1:c.505A>C VV NP_001032626.1:p.Asn169His
NM_006214.3:c.805A>C VV NP_006205.1:p.Asn269His
XM_005252469.2:c.586A>C XP_005252526.1:p.Asn196His
NM_001323080.1:c.505A>C VV NP_001310009.1:p.Asn169His
NM_001323082.1:c.811A>C VV NP_001310011.1:p.Asn271His
NM_001323083.1:c.541A>C VV NP_001310012.1:p.Asn181His
NM_001323084.1:c.511A>C VV NP_001310013.1:p.Asn171His
NM_006214.4:c.805A>C VV MANE Preferred NP_006205.1:p.Asn269His
ENST00000263038.8:c.805A>C ENSP00000263038.4:p.Asn269His
ENST00000396913.6:c.505A>C ENSP00000380121.2:p.Asn169His
ENST00000396920.7:c.754A>C ENSP00000380126.3:p.Asn252His
ENST00000453759.6:c.505A>C ENSP00000412525.2:p.Asn169His