Canonical Allele Identifier: CA376034266

Gene: PHYH

Linked Data

• ClinVar Variation Id: 879440
• ClinVar RCV Id: RCV001106947 ; RCV001862859
• dbSNP Id: rs1835475877
• gnomAD v4: 10-13283779-G-A
• MyVariant Identifiers: chr10:g.13325779G>A (hg19) ; chr10:g.13283779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283779G>A , CM000672.2:g.13283779G>A	GRCh38
NC_000010.10:g.13325779G>A , CM000672.1:g.13325779G>A	GRCh37
NC_000010.9:g.13365785G>A	NCBI36
NG_012862.1:g.21352C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.739C>T MANE Select	ENSP00000263038.4:p.His247Tyr
ENST00000263038.8:c.739C>T	ENSP00000263038.4:p.His247Tyr
ENST00000396913.6:c.439C>T	ENSP00000380121.2:p.His147Tyr
ENST00000396920.7:c.688C>T	ENSP00000380126.3:p.His230Tyr
ENST00000453759.6:c.439C>T	ENSP00000412525.2:p.His147Tyr
NM_001037537.1:c.439C>T	NP_001032626.1:p.His147Tyr
NM_006214.3:c.739C>T	NP_006205.1:p.His247Tyr
XM_005252469.2:c.520C>T	XP_005252526.1:p.His174Tyr
NM_001323080.1:c.439C>T	NP_001310009.1:p.His147Tyr
NM_001323082.1:c.745C>T	NP_001310011.1:p.His249Tyr
NM_001323083.1:c.475C>T	NP_001310012.1:p.His159Tyr
NM_001323084.1:c.445C>T	NP_001310013.1:p.His149Tyr
NM_006214.4:c.739C>T MANE Select	NP_006205.1:p.His247Tyr
NM_001037537.2:c.439C>T	NP_001032626.1:p.His147Tyr
NM_001323080.2:c.439C>T	NP_001310009.1:p.His147Tyr
NM_001323082.2:c.745C>T	NP_001310011.1:p.His249Tyr
NM_001323083.2:c.475C>T	NP_001310012.1:p.His159Tyr
NM_001323084.2:c.445C>T	NP_001310013.1:p.His149Tyr