Canonical Allele Identifier: CA376051216

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13323001C>A (hg19) ; chr10:g.13281001C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13281001C>A , CM000672.2:g.13281001C>A	GRCh38
NC_000010.10:g.13323001C>A , CM000672.1:g.13323001C>A	GRCh37
NC_000010.9:g.13363007C>A	NCBI36
NG_012862.1:g.24130G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.938G>T MANE Select	ENSP00000263038.4:p.Gly313Val
ENST00000263038.8:c.938G>T	ENSP00000263038.4:p.Gly313Val
ENST00000396913.6:c.638G>T	ENSP00000380121.2:p.Gly213Val
ENST00000396920.7:c.887G>T	ENSP00000380126.3:p.Gly296Val
NM_001037537.1:c.638G>T	NP_001032626.1:p.Gly213Val
NM_006214.3:c.938G>T	NP_006205.1:p.Gly313Val
XM_005252469.2:c.719G>T	XP_005252526.1:p.Gly240Val
NM_001323080.1:c.638G>T	NP_001310009.1:p.Gly213Val
NM_001323082.1:c.944G>T	NP_001310011.1:p.Gly315Val
NM_001323083.1:c.674G>T	NP_001310012.1:p.Gly225Val
NM_001323084.1:c.644G>T	NP_001310013.1:p.Gly215Val
NM_006214.4:c.938G>T MANE Select	NP_006205.1:p.Gly313Val
NM_001037537.2:c.638G>T	NP_001032626.1:p.Gly213Val
NM_001323080.2:c.638G>T	NP_001310009.1:p.Gly213Val
NM_001323082.2:c.944G>T	NP_001310011.1:p.Gly315Val
NM_001323083.2:c.674G>T	NP_001310012.1:p.Gly225Val
NM_001323084.2:c.644G>T	NP_001310013.1:p.Gly215Val