Canonical Allele Identifier: CA376034187

Gene: PHYH

Linked Data

• ClinVar Variation Id: 1377863
• ClinVar RCV Id: RCV001880875
• dbSNP Id: rs139329047
• gnomAD v3: 10-13283758-C-A
• gnomAD v4: 10-13283758-C-A
• MyVariant Identifiers: chr10:g.13325758C>A (hg19) ; chr10:g.13283758C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283758C>A , CM000672.2:g.13283758C>A	GRCh38
NC_000010.10:g.13325758C>A , CM000672.1:g.13325758C>A	GRCh37
NC_000010.9:g.13365764C>A	NCBI36
NG_012862.1:g.21373G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.760G>T MANE Select	ENSP00000263038.4:p.Asp254Tyr
ENST00000263038.8:c.760G>T	ENSP00000263038.4:p.Asp254Tyr
ENST00000396913.6:c.460G>T	ENSP00000380121.2:p.Asp154Tyr
ENST00000396920.7:c.709G>T	ENSP00000380126.3:p.Asp237Tyr
ENST00000453759.6:c.460G>T	ENSP00000412525.2:p.Asp154Tyr
NM_001037537.1:c.460G>T	NP_001032626.1:p.Asp154Tyr
NM_006214.3:c.760G>T	NP_006205.1:p.Asp254Tyr
XM_005252469.2:c.541G>T	XP_005252526.1:p.Asp181Tyr
NM_001323080.1:c.460G>T	NP_001310009.1:p.Asp154Tyr
NM_001323082.1:c.766G>T	NP_001310011.1:p.Asp256Tyr
NM_001323083.1:c.496G>T	NP_001310012.1:p.Asp166Tyr
NM_001323084.1:c.466G>T	NP_001310013.1:p.Asp156Tyr
NM_006214.4:c.760G>T MANE Select	NP_006205.1:p.Asp254Tyr
NM_001037537.2:c.460G>T	NP_001032626.1:p.Asp154Tyr
NM_001323080.2:c.460G>T	NP_001310009.1:p.Asp154Tyr
NM_001323082.2:c.766G>T	NP_001310011.1:p.Asp256Tyr
NM_001323083.2:c.496G>T	NP_001310012.1:p.Asp166Tyr
NM_001323084.2:c.466G>T	NP_001310013.1:p.Asp156Tyr