Canonical Allele Identifier: CA376034147

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325741A>C (hg19) ; chr10:g.13283741A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283741A>C , CM000672.2:g.13283741A>C	GRCh38
NC_000010.10:g.13325741A>C , CM000672.1:g.13325741A>C	GRCh37
NC_000010.9:g.13365747A>C	NCBI36
NG_012862.1:g.21390T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.777T>G MANE Select	ENSP00000263038.4:p.His259Gln
ENST00000263038.8:c.777T>G	ENSP00000263038.4:p.His259Gln
ENST00000396913.6:c.477T>G	ENSP00000380121.2:p.His159Gln
ENST00000396920.7:c.726T>G	ENSP00000380126.3:p.His242Gln
ENST00000453759.6:c.477T>G	ENSP00000412525.2:p.His159Gln
NM_001037537.1:c.477T>G	NP_001032626.1:p.His159Gln
NM_006214.3:c.777T>G	NP_006205.1:p.His259Gln
XM_005252469.2:c.558T>G	XP_005252526.1:p.His186Gln
NM_001323080.1:c.477T>G	NP_001310009.1:p.His159Gln
NM_001323082.1:c.783T>G	NP_001310011.1:p.His261Gln
NM_001323083.1:c.513T>G	NP_001310012.1:p.His171Gln
NM_001323084.1:c.483T>G	NP_001310013.1:p.His161Gln
NM_006214.4:c.777T>G MANE Select	NP_006205.1:p.His259Gln
NM_001037537.2:c.477T>G	NP_001032626.1:p.His159Gln
NM_001323080.2:c.477T>G	NP_001310009.1:p.His159Gln
NM_001323082.2:c.783T>G	NP_001310011.1:p.His261Gln
NM_001323083.2:c.513T>G	NP_001310012.1:p.His171Gln
NM_001323084.2:c.483T>G	NP_001310013.1:p.His161Gln