Canonical Allele Identifier: CA118907
Gene: PHYH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7587
ClinVar RCV Id: RCV000008025
dbSNP Id: rs104894173
COSMIC: COSM916259

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.13288428C>T , CM000672.2:g.13288428C>T GRCh38
NC_000010.9:g.13370434C>T NCBI36
NC_000010.10:g.13330428C>T , CM000672.1:g.13330428C>T GRCh37
NG_012862.1:g.16703G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000263038.8:c.610G>A ENSP00000263038.4:p.Gly204Ser
ENST00000396913.6:c.310G>A ENSP00000380121.2:p.Gly104Ser
ENST00000396920.7:c.559G>A ENSP00000380126.3:p.Gly187Ser
ENST00000453759.6:c.310G>A ENSP00000412525.2:p.Gly104Ser
ENST00000479604.1:c.616G>A ENSP00000420117.1:p.Gly206Ser
NM_001037537.1:c.310G>A NP_001032626.1:p.Gly104Ser
NM_006214.3:c.610G>A NP_006205.1:p.Gly204Ser
XM_005252469.2:c.460-4589G>A XP_005252526.1:p.=