Canonical Allele Identifier: CA118908

Gene: PHYH

Linked Data

• ClinVar Variation Id: 7588
• ClinVar RCV Id: RCV000008026 ; RCV001851728 ; RCV003473056
• dbSNP Id: rs104894174
• ExAC: 10:13325694 C / T
• gnomAD v2: 10-13325694-C-T
• gnomAD v3: 10-13283694-C-T
• gnomAD v4: 10-13283694-C-T
• COSMIC: COSM4714200
• MyVariant Identifiers: chr10:g.13325694C>T (hg19) ; chr10:g.13283694C>T (hg38)
• PubMed: PMID:10767344

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
ENST00000263038.9:c.824G>A MANE Select	ENSP00000263038.4: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
NM_001037537.1:c.524G>A	NP_001032626.1:p.Arg175Gln
NM_006214.3:c.824G>A	NP_006205.1:p.Arg275Gln
XM_005252469.2:c.605G>A	XP_005252526.1:p.Arg202Gln
NM_001323080.1:c.524G>A	NP_001310009.1:p.Arg175Gln
NM_001323082.1:c.830G>A	NP_001310011.1:p.Arg277Gln
NM_001323083.1:c.560G>A	NP_001310012.1:p.Arg187Gln
NM_001323084.1:c.530G>A	NP_001310013.1:p.Arg177Gln
NM_006214.4:c.824G>A MANE Select	NP_006205.1:p.Arg275Gln
NM_001037537.2:c.524G>A	NP_001032626.1:p.Arg175Gln
NM_001323080.2:c.524G>A	NP_001310009.1:p.Arg175Gln
NM_001323082.2:c.830G>A	NP_001310011.1:p.Arg277Gln
NM_001323083.2:c.560G>A	NP_001310012.1:p.Arg187Gln
NM_001323084.2:c.530G>A	NP_001310013.1:p.Arg177Gln