Canonical Allele Identifier: CA592075150

Gene: PHYH

Linked Data

• dbSNP Id: rs1397686193
• gnomAD v2: 10-13325717-AC-A
• gnomAD v4: 10-13283717-AC-A
• MyVariant Identifiers: chr10:g.13325718del (hg19) ; chr10:g.13283718del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283719del , CM000672.2:g.13283719del	GRCh38
NC_000010.10:g.13325719del , CM000672.1:g.13325719del	GRCh37
NC_000010.9:g.13365725del	NCBI36
NG_012862.1:g.21413del

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.800del MANE Select	ENSP00000263038.4:p.Gly267ValfsTer26
ENST00000263038.8:c.800del	ENSP00000263038.4:p.Gly267ValfsTer26
ENST00000396913.6:c.500del	ENSP00000380121.2:p.Gly167ValfsTer26
ENST00000396920.7:c.749del	ENSP00000380126.3:p.Gly250ValfsTer26
ENST00000453759.6:c.500del	ENSP00000412525.2:p.Gly167ValfsTer?
NM_001037537.1:c.500del	NP_001032626.1:p.Gly167ValfsTer26
NM_006214.3:c.800del	NP_006205.1:p.Gly267ValfsTer26
XM_005252469.2:c.581del	XP_005252526.1:p.Gly194ValfsTer26
NM_001323080.1:c.500del	NP_001310009.1:p.Gly167ValfsTer26
NM_001323082.1:c.806del	NP_001310011.1:p.Gly269ValfsTer26
NM_001323083.1:c.536del	NP_001310012.1:p.Gly179ValfsTer26
NM_001323084.1:c.506del	NP_001310013.1:p.Gly169ValfsTer26
NM_006214.4:c.800del MANE Select	NP_006205.1:p.Gly267ValfsTer26
NM_001037537.2:c.500del	NP_001032626.1:p.Gly167ValfsTer26
NM_001323080.2:c.500del	NP_001310009.1:p.Gly167ValfsTer26
NM_001323082.2:c.806del	NP_001310011.1:p.Gly269ValfsTer26
NM_001323083.2:c.536del	NP_001310012.1:p.Gly179ValfsTer26
NM_001323084.2:c.506del	NP_001310013.1:p.Gly169ValfsTer26