Canonical Allele Identifier: CA203276251

Gene: PHYH

Linked Data

• ClinVar Variation Id: 1964570
• ClinVar RCV Id: RCV002721457
• dbSNP Id: rs978055214
• gnomAD v2: 10-13325725-C-T
• gnomAD v3: 10-13283725-C-T
• gnomAD v4: 10-13283725-C-T
• MyVariant Identifiers: chr10:g.13325725C>T (hg19) ; chr10:g.13283725C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283725C>T , CM000672.2:g.13283725C>T	GRCh38
NC_000010.10:g.13325725C>T , CM000672.1:g.13325725C>T	GRCh37
NC_000010.9:g.13365731C>T	NCBI36
NG_012862.1:g.21406G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.793G>A MANE Select	ENSP00000263038.4:p.Gly265Arg
ENST00000263038.8:c.793G>A	ENSP00000263038.4:p.Gly265Arg
ENST00000396913.6:c.493G>A	ENSP00000380121.2:p.Gly165Arg
ENST00000396920.7:c.742G>A	ENSP00000380126.3:p.Gly248Arg
ENST00000453759.6:c.493G>A	ENSP00000412525.2:p.Gly165Arg
NM_001037537.1:c.493G>A	NP_001032626.1:p.Gly165Arg
NM_006214.3:c.793G>A	NP_006205.1:p.Gly265Arg
XM_005252469.2:c.574G>A	XP_005252526.1:p.Gly192Arg
NM_001323080.1:c.493G>A	NP_001310009.1:p.Gly165Arg
NM_001323082.1:c.799G>A	NP_001310011.1:p.Gly267Arg
NM_001323083.1:c.529G>A	NP_001310012.1:p.Gly177Arg
NM_001323084.1:c.499G>A	NP_001310013.1:p.Gly167Arg
NM_006214.4:c.793G>A MANE Select	NP_006205.1:p.Gly265Arg
NM_001037537.2:c.493G>A	NP_001032626.1:p.Gly165Arg
NM_001323080.2:c.493G>A	NP_001310009.1:p.Gly165Arg
NM_001323082.2:c.799G>A	NP_001310011.1:p.Gly267Arg
NM_001323083.2:c.529G>A	NP_001310012.1:p.Gly177Arg
NM_001323084.2:c.499G>A	NP_001310013.1:p.Gly167Arg