Canonical Allele Identifier: CA376034160

Gene: PHYH

Linked Data

• ClinVar Variation Id: 1025445
• ClinVar RCV Id: RCV001325758
• dbSNP Id: rs1835474540
• MyVariant Identifiers: chr10:g.13325746A>C (hg19) ; chr10:g.13283746A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283746A>C , CM000672.2:g.13283746A>C	GRCh38
NC_000010.10:g.13325746A>C , CM000672.1:g.13325746A>C	GRCh37
NC_000010.9:g.13365752A>C	NCBI36
NG_012862.1:g.21385T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.772T>G MANE Select	ENSP00000263038.4:p.Phe258Val
ENST00000263038.8:c.772T>G	ENSP00000263038.4:p.Phe258Val
ENST00000396913.6:c.472T>G	ENSP00000380121.2:p.Phe158Val
ENST00000396920.7:c.721T>G	ENSP00000380126.3:p.Phe241Val
ENST00000453759.6:c.472T>G	ENSP00000412525.2:p.Phe158Val
NM_001037537.1:c.472T>G	NP_001032626.1:p.Phe158Val
NM_006214.3:c.772T>G	NP_006205.1:p.Phe258Val
XM_005252469.2:c.553T>G	XP_005252526.1:p.Phe185Val
NM_001323080.1:c.472T>G	NP_001310009.1:p.Phe158Val
NM_001323082.1:c.778T>G	NP_001310011.1:p.Phe260Val
NM_001323083.1:c.508T>G	NP_001310012.1:p.Phe170Val
NM_001323084.1:c.478T>G	NP_001310013.1:p.Phe160Val
NM_006214.4:c.772T>G MANE Select	NP_006205.1:p.Phe258Val
NM_001037537.2:c.472T>G	NP_001032626.1:p.Phe158Val
NM_001323080.2:c.472T>G	NP_001310009.1:p.Phe158Val
NM_001323082.2:c.778T>G	NP_001310011.1:p.Phe260Val
NM_001323083.2:c.508T>G	NP_001310012.1:p.Phe170Val
NM_001323084.2:c.478T>G	NP_001310013.1:p.Phe160Val