Canonical Allele Identifier: CA468237035

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325776G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283776G>A , CM000672.2:g.13283776G>A	GRCh38
NC_000010.10:g.13325776G>A , CM000672.1:g.13325776G>A	GRCh37
NC_000010.9:g.13365782G>A	NCBI36
NG_012862.1:g.21355C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.742C>T MANE Select	ENSP00000263038.4:p.Leu248=
ENST00000263038.8:c.742C>T	ENSP00000263038.4:p.Leu248=
ENST00000396913.6:c.442C>T	ENSP00000380121.2:p.Leu148=
ENST00000396920.7:c.691C>T	ENSP00000380126.3:p.Leu231=
ENST00000453759.6:c.442C>T	ENSP00000412525.2:p.Leu148=
NM_001037537.1:c.442C>T	NP_001032626.1:p.Leu148=
NM_006214.3:c.742C>T	NP_006205.1:p.Leu248=
XM_005252469.2:c.523C>T	XP_005252526.1:p.Leu175=
NM_001323080.1:c.442C>T	NP_001310009.1:p.Leu148=
NM_001323082.1:c.748C>T	NP_001310011.1:p.Leu250=
NM_001323083.1:c.478C>T	NP_001310012.1:p.Leu160=
NM_001323084.1:c.448C>T	NP_001310013.1:p.Leu150=
NM_006214.4:c.742C>T MANE Select	NP_006205.1:p.Leu248=
NM_001037537.2:c.442C>T	NP_001032626.1:p.Leu148=
NM_001323080.2:c.442C>T	NP_001310009.1:p.Leu148=
NM_001323082.2:c.748C>T	NP_001310011.1:p.Leu250=
NM_001323083.2:c.478C>T	NP_001310012.1:p.Leu160=
NM_001323084.2:c.448C>T	NP_001310013.1:p.Leu150=