Canonical Allele Identifier: CA376034142

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325739G>T (hg19) ; chr10:g.13283739G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283739G>T , CM000672.2:g.13283739G>T	GRCh38
NC_000010.10:g.13325739G>T , CM000672.1:g.13325739G>T	GRCh37
NC_000010.9:g.13365745G>T	NCBI36
NG_012862.1:g.21392C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.779C>A MANE Select	ENSP00000263038.4:p.Pro260His
ENST00000263038.8:c.779C>A	ENSP00000263038.4:p.Pro260His
ENST00000396913.6:c.479C>A	ENSP00000380121.2:p.Pro160His
ENST00000396920.7:c.728C>A	ENSP00000380126.3:p.Pro243His
ENST00000453759.6:c.479C>A	ENSP00000412525.2:p.Pro160His
NM_001037537.1:c.479C>A	NP_001032626.1:p.Pro160His
NM_006214.3:c.779C>A	NP_006205.1:p.Pro260His
XM_005252469.2:c.560C>A	XP_005252526.1:p.Pro187His
NM_001323080.1:c.479C>A	NP_001310009.1:p.Pro160His
NM_001323082.1:c.785C>A	NP_001310011.1:p.Pro262His
NM_001323083.1:c.515C>A	NP_001310012.1:p.Pro172His
NM_001323084.1:c.485C>A	NP_001310013.1:p.Pro162His
NM_006214.4:c.779C>A MANE Select	NP_006205.1:p.Pro260His
NM_001037537.2:c.479C>A	NP_001032626.1:p.Pro160His
NM_001323080.2:c.479C>A	NP_001310009.1:p.Pro160His
NM_001323082.2:c.785C>A	NP_001310011.1:p.Pro262His
NM_001323083.2:c.515C>A	NP_001310012.1:p.Pro172His
NM_001323084.2:c.485C>A	NP_001310013.1:p.Pro162His