Canonical Allele Identifier: CA376034165

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325748A>C (hg19) ; chr10:g.13283748A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283748A>C , CM000672.2:g.13283748A>C	GRCh38
NC_000010.10:g.13325748A>C , CM000672.1:g.13325748A>C	GRCh37
NC_000010.9:g.13365754A>C	NCBI36
NG_012862.1:g.21383T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.770T>G MANE Select	ENSP00000263038.4:p.Phe257Cys
ENST00000263038.8:c.770T>G	ENSP00000263038.4:p.Phe257Cys
ENST00000396913.6:c.470T>G	ENSP00000380121.2:p.Phe157Cys
ENST00000396920.7:c.719T>G	ENSP00000380126.3:p.Phe240Cys
ENST00000453759.6:c.470T>G	ENSP00000412525.2:p.Phe157Cys
NM_001037537.1:c.470T>G	NP_001032626.1:p.Phe157Cys
NM_006214.3:c.770T>G	NP_006205.1:p.Phe257Cys
XM_005252469.2:c.551T>G	XP_005252526.1:p.Phe184Cys
NM_001323080.1:c.470T>G	NP_001310009.1:p.Phe157Cys
NM_001323082.1:c.776T>G	NP_001310011.1:p.Phe259Cys
NM_001323083.1:c.506T>G	NP_001310012.1:p.Phe169Cys
NM_001323084.1:c.476T>G	NP_001310013.1:p.Phe159Cys
NM_006214.4:c.770T>G MANE Select	NP_006205.1:p.Phe257Cys
NM_001037537.2:c.470T>G	NP_001032626.1:p.Phe157Cys
NM_001323080.2:c.470T>G	NP_001310009.1:p.Phe157Cys
NM_001323082.2:c.776T>G	NP_001310011.1:p.Phe259Cys
NM_001323083.2:c.506T>G	NP_001310012.1:p.Phe169Cys
NM_001323084.2:c.476T>G	NP_001310013.1:p.Phe159Cys