Canonical Allele Identifier: CA468236880

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325729G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283729G>A , CM000672.2:g.13283729G>A	GRCh38
NC_000010.10:g.13325729G>A , CM000672.1:g.13325729G>A	GRCh37
NC_000010.9:g.13365735G>A	NCBI36
NG_012862.1:g.21402C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.789C>T MANE Select	ENSP00000263038.4:p.Ile263=
ENST00000263038.8:c.789C>T	ENSP00000263038.4:p.Ile263=
ENST00000396913.6:c.489C>T	ENSP00000380121.2:p.Ile163=
ENST00000396920.7:c.738C>T	ENSP00000380126.3:p.Ile246=
ENST00000453759.6:c.489C>T	ENSP00000412525.2:p.Ile163=
NM_001037537.1:c.489C>T	NP_001032626.1:p.Ile163=
NM_006214.3:c.789C>T	NP_006205.1:p.Ile263=
XM_005252469.2:c.570C>T	XP_005252526.1:p.Ile190=
NM_001323080.1:c.489C>T	NP_001310009.1:p.Ile163=
NM_001323082.1:c.795C>T	NP_001310011.1:p.Ile265=
NM_001323083.1:c.525C>T	NP_001310012.1:p.Ile175=
NM_001323084.1:c.495C>T	NP_001310013.1:p.Ile165=
NM_006214.4:c.789C>T MANE Select	NP_006205.1:p.Ile263=
NM_001037537.2:c.489C>T	NP_001032626.1:p.Ile163=
NM_001323080.2:c.489C>T	NP_001310009.1:p.Ile163=
NM_001323082.2:c.795C>T	NP_001310011.1:p.Ile265=
NM_001323083.2:c.525C>T	NP_001310012.1:p.Ile175=
NM_001323084.2:c.495C>T	NP_001310013.1:p.Ile165=