Canonical Allele Identifier: CA376034212

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325767C>T (hg19) ; chr10:g.13283767C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283767C>T , CM000672.2:g.13283767C>T	GRCh38
NC_000010.10:g.13325767C>T , CM000672.1:g.13325767C>T	GRCh37
NC_000010.9:g.13365773C>T	NCBI36
NG_012862.1:g.21364G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.751G>A MANE Select	ENSP00000263038.4:p.Glu251Lys
ENST00000263038.8:c.751G>A	ENSP00000263038.4:p.Glu251Lys
ENST00000396913.6:c.451G>A	ENSP00000380121.2:p.Glu151Lys
ENST00000396920.7:c.700G>A	ENSP00000380126.3:p.Glu234Lys
ENST00000453759.6:c.451G>A	ENSP00000412525.2:p.Glu151Lys
NM_001037537.1:c.451G>A	NP_001032626.1:p.Glu151Lys
NM_006214.3:c.751G>A	NP_006205.1:p.Glu251Lys
XM_005252469.2:c.532G>A	XP_005252526.1:p.Glu178Lys
NM_001323080.1:c.451G>A	NP_001310009.1:p.Glu151Lys
NM_001323082.1:c.757G>A	NP_001310011.1:p.Glu253Lys
NM_001323083.1:c.487G>A	NP_001310012.1:p.Glu163Lys
NM_001323084.1:c.457G>A	NP_001310013.1:p.Glu153Lys
NM_006214.4:c.751G>A MANE Select	NP_006205.1:p.Glu251Lys
NM_001037537.2:c.451G>A	NP_001032626.1:p.Glu151Lys
NM_001323080.2:c.451G>A	NP_001310009.1:p.Glu151Lys
NM_001323082.2:c.757G>A	NP_001310011.1:p.Glu253Lys
NM_001323083.2:c.487G>A	NP_001310012.1:p.Glu163Lys
NM_001323084.2:c.457G>A	NP_001310013.1:p.Glu153Lys