Canonical Allele Identifier: CA118904

Gene: PHYH

Linked Data

• ClinVar Variation Id: 7580
• ClinVar RCV Id: RCV000008018 ; RCV000255609 ; RCV000505105 ; RCV000665657 ; RCV002426496
• dbSNP Id: rs104894178
• ExAC: 10:13325695 G / A
• gnomAD v2: 10-13325695-G-A
• gnomAD v3: 10-13283695-G-A
• gnomAD v4: 10-13283695-G-A
• MyVariant Identifiers: chr10:g.13325695G>A (hg19) ; chr10:g.13283695G>A (hg38)
• PubMed: PMID:9326939 ; PMID:10767344 ; PMID:28041643

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283695G>A , CM000672.2:g.13283695G>A	GRCh38
NC_000010.10:g.13325695G>A , CM000672.1:g.13325695G>A	GRCh37
NC_000010.9:g.13365701G>A	NCBI36
NG_012862.1:g.21436C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.823C>T MANE Select	ENSP00000263038.4:p.Arg275Trp
ENST00000263038.8:c.823C>T	ENSP00000263038.4:p.Arg275Trp
ENST00000396913.6:c.523C>T	ENSP00000380121.2:p.Arg175Trp
ENST00000396920.7:c.772C>T	ENSP00000380126.3:p.Arg258Trp
ENST00000453759.6:c.523C>T	ENSP00000412525.2:p.Arg175Trp
NM_001037537.1:c.523C>T	NP_001032626.1:p.Arg175Trp
NM_006214.3:c.823C>T	NP_006205.1:p.Arg275Trp
XM_005252469.2:c.604C>T	XP_005252526.1:p.Arg202Trp
NM_001323080.1:c.523C>T	NP_001310009.1:p.Arg175Trp
NM_001323082.1:c.829C>T	NP_001310011.1:p.Arg277Trp
NM_001323083.1:c.559C>T	NP_001310012.1:p.Arg187Trp
NM_001323084.1:c.529C>T	NP_001310013.1:p.Arg177Trp
NM_006214.4:c.823C>T MANE Select	NP_006205.1:p.Arg275Trp
NM_001037537.2:c.523C>T	NP_001032626.1:p.Arg175Trp
NM_001323080.2:c.523C>T	NP_001310009.1:p.Arg175Trp
NM_001323082.2:c.829C>T	NP_001310011.1:p.Arg277Trp
NM_001323083.2:c.559C>T	NP_001310012.1:p.Arg187Trp
NM_001323084.2:c.529C>T	NP_001310013.1:p.Arg177Trp