Canonical Allele Identifier: CA468236903

Gene: PHYH

Linked Data

• gnomAD v4: 10-13283735-C-T
• MyVariant Identifiers: chr10:g.13325735C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283735C>T , CM000672.2:g.13283735C>T	GRCh38
NC_000010.10:g.13325735C>T , CM000672.1:g.13325735C>T	GRCh37
NC_000010.9:g.13365741C>T	NCBI36
NG_012862.1:g.21396G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.783G>A MANE Select	ENSP00000263038.4:p.Leu261=
ENST00000263038.8:c.783G>A	ENSP00000263038.4:p.Leu261=
ENST00000396913.6:c.483G>A	ENSP00000380121.2:p.Leu161=
ENST00000396920.7:c.732G>A	ENSP00000380126.3:p.Leu244=
ENST00000453759.6:c.483G>A	ENSP00000412525.2:p.Leu161=
NM_001037537.1:c.483G>A	NP_001032626.1:p.Leu161=
NM_006214.3:c.783G>A	NP_006205.1:p.Leu261=
XM_005252469.2:c.564G>A	XP_005252526.1:p.Leu188=
NM_001323080.1:c.483G>A	NP_001310009.1:p.Leu161=
NM_001323082.1:c.789G>A	NP_001310011.1:p.Leu263=
NM_001323083.1:c.519G>A	NP_001310012.1:p.Leu173=
NM_001323084.1:c.489G>A	NP_001310013.1:p.Leu163=
NM_006214.4:c.783G>A MANE Select	NP_006205.1:p.Leu261=
NM_001037537.2:c.483G>A	NP_001032626.1:p.Leu161=
NM_001323080.2:c.483G>A	NP_001310009.1:p.Leu161=
NM_001323082.2:c.789G>A	NP_001310011.1:p.Leu263=
NM_001323083.2:c.519G>A	NP_001310012.1:p.Leu173=
NM_001323084.2:c.489G>A	NP_001310013.1:p.Leu163=