Canonical Allele Identifier: CA376051225

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13323002C>T (hg19) ; chr10:g.13281002C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13281002C>T , CM000672.2:g.13281002C>T	GRCh38
NC_000010.10:g.13323002C>T , CM000672.1:g.13323002C>T	GRCh37
NC_000010.9:g.13363008C>T	NCBI36
NG_012862.1:g.24129G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.937G>A MANE Select	ENSP00000263038.4:p.Gly313Arg
ENST00000263038.8:c.937G>A	ENSP00000263038.4:p.Gly313Arg
ENST00000396913.6:c.637G>A	ENSP00000380121.2:p.Gly213Arg
ENST00000396920.7:c.886G>A	ENSP00000380126.3:p.Gly296Arg
NM_001037537.1:c.637G>A	NP_001032626.1:p.Gly213Arg
NM_006214.3:c.937G>A	NP_006205.1:p.Gly313Arg
XM_005252469.2:c.718G>A	XP_005252526.1:p.Gly240Arg
NM_001323080.1:c.637G>A	NP_001310009.1:p.Gly213Arg
NM_001323082.1:c.943G>A	NP_001310011.1:p.Gly315Arg
NM_001323083.1:c.673G>A	NP_001310012.1:p.Gly225Arg
NM_001323084.1:c.643G>A	NP_001310013.1:p.Gly215Arg
NM_006214.4:c.937G>A MANE Select	NP_006205.1:p.Gly313Arg
NM_001037537.2:c.637G>A	NP_001032626.1:p.Gly213Arg
NM_001323080.2:c.637G>A	NP_001310009.1:p.Gly213Arg
NM_001323082.2:c.943G>A	NP_001310011.1:p.Gly315Arg
NM_001323083.2:c.673G>A	NP_001310012.1:p.Gly225Arg
NM_001323084.2:c.643G>A	NP_001310013.1:p.Gly215Arg