Canonical Allele Identifier: CA2018072149

Gene: PHYH

Linked Data

• ClinVar Variation Id: 1698840
• ClinVar RCV Id: RCV002272697
• dbSNP Id: rs2131634446

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283710del , CM000672.2:g.13283710del	GRCh38
NC_000010.10:g.13325710del , CM000672.1:g.13325710del	GRCh37
NC_000010.9:g.13365716del	NCBI36
NG_012862.1:g.21424del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.811del MANE Select	ENSP00000263038.4:p.Thr271ProfsTer22
ENST00000263038.8:c.811del	ENSP00000263038.4:p.Thr271ProfsTer22
ENST00000396913.6:c.511del	ENSP00000380121.2:p.Thr171ProfsTer22
ENST00000396920.7:c.760del	ENSP00000380126.3:p.Thr254ProfsTer22
ENST00000453759.6:c.511del	ENSP00000412525.2:p.Thr171ProfsTer?
NM_001037537.1:c.511del	NP_001032626.1:p.Thr171ProfsTer22
NM_006214.3:c.811del	NP_006205.1:p.Thr271ProfsTer22
XM_005252469.2:c.592del	XP_005252526.1:p.Thr198ProfsTer22
NM_001323080.1:c.511del	NP_001310009.1:p.Thr171ProfsTer22
NM_001323082.1:c.817del	NP_001310011.1:p.Thr273ProfsTer22
NM_001323083.1:c.547del	NP_001310012.1:p.Thr183ProfsTer22
NM_001323084.1:c.517del	NP_001310013.1:p.Thr173ProfsTer22
NM_006214.4:c.811del MANE Select	NP_006205.1:p.Thr271ProfsTer22
NM_001037537.2:c.511del	NP_001032626.1:p.Thr171ProfsTer22
NM_001323080.2:c.511del	NP_001310009.1:p.Thr171ProfsTer22
NM_001323082.2:c.817del	NP_001310011.1:p.Thr273ProfsTer22
NM_001323083.2:c.547del	NP_001310012.1:p.Thr183ProfsTer22
NM_001323084.2:c.517del	NP_001310013.1:p.Thr173ProfsTer22