Canonical Allele Identifier: CA376034058

Gene: PHYH

Linked Data

• ClinVar Variation Id: 2861585
• ClinVar RCV Id: RCV003704416
• MyVariant Identifiers: chr10:g.13325701C>A (hg19) ; chr10:g.13283701C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283701C>A , CM000672.2:g.13283701C>A	GRCh38
NC_000010.10:g.13325701C>A , CM000672.1:g.13325701C>A	GRCh37
NC_000010.9:g.13365707C>A	NCBI36
NG_012862.1:g.21430G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.817G>T MANE Select	ENSP00000263038.4:p.Gly273Ter
ENST00000263038.8:c.817G>T	ENSP00000263038.4:p.Gly273Ter
ENST00000396913.6:c.517G>T	ENSP00000380121.2:p.Gly173Ter
ENST00000396920.7:c.766G>T	ENSP00000380126.3:p.Gly256Ter
ENST00000453759.6:c.517G>T	ENSP00000412525.2:p.Gly173Ter
NM_001037537.1:c.517G>T	NP_001032626.1:p.Gly173Ter
NM_006214.3:c.817G>T	NP_006205.1:p.Gly273Ter
XM_005252469.2:c.598G>T	XP_005252526.1:p.Gly200Ter
NM_001323080.1:c.517G>T	NP_001310009.1:p.Gly173Ter
NM_001323082.1:c.823G>T	NP_001310011.1:p.Gly275Ter
NM_001323083.1:c.553G>T	NP_001310012.1:p.Gly185Ter
NM_001323084.1:c.523G>T	NP_001310013.1:p.Gly175Ter
NM_006214.4:c.817G>T MANE Select	NP_006205.1:p.Gly273Ter
NM_001037537.2:c.517G>T	NP_001032626.1:p.Gly173Ter
NM_001323080.2:c.517G>T	NP_001310009.1:p.Gly173Ter
NM_001323082.2:c.823G>T	NP_001310011.1:p.Gly275Ter
NM_001323083.2:c.553G>T	NP_001310012.1:p.Gly185Ter
NM_001323084.2:c.523G>T	NP_001310013.1:p.Gly175Ter