Canonical Allele Identifier: CA468236981

Gene: PHYH

Linked Data

• gnomAD v4: 10-13283756-G-A
• MyVariant Identifiers: chr10:g.13325756G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283756G>A , CM000672.2:g.13283756G>A	GRCh38
NC_000010.10:g.13325756G>A , CM000672.1:g.13325756G>A	GRCh37
NC_000010.9:g.13365762G>A	NCBI36
NG_012862.1:g.21375C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.762C>T MANE Select	ENSP00000263038.4:p.Asp254=
ENST00000263038.8:c.762C>T	ENSP00000263038.4:p.Asp254=
ENST00000396913.6:c.462C>T	ENSP00000380121.2:p.Asp154=
ENST00000396920.7:c.711C>T	ENSP00000380126.3:p.Asp237=
ENST00000453759.6:c.462C>T	ENSP00000412525.2:p.Asp154=
NM_001037537.1:c.462C>T	NP_001032626.1:p.Asp154=
NM_006214.3:c.762C>T	NP_006205.1:p.Asp254=
XM_005252469.2:c.543C>T	XP_005252526.1:p.Asp181=
NM_001323080.1:c.462C>T	NP_001310009.1:p.Asp154=
NM_001323082.1:c.768C>T	NP_001310011.1:p.Asp256=
NM_001323083.1:c.498C>T	NP_001310012.1:p.Asp166=
NM_001323084.1:c.468C>T	NP_001310013.1:p.Asp156=
NM_006214.4:c.762C>T MANE Select	NP_006205.1:p.Asp254=
NM_001037537.2:c.462C>T	NP_001032626.1:p.Asp154=
NM_001323080.2:c.462C>T	NP_001310009.1:p.Asp154=
NM_001323082.2:c.768C>T	NP_001310011.1:p.Asp256=
NM_001323083.2:c.498C>T	NP_001310012.1:p.Asp166=
NM_001323084.2:c.468C>T	NP_001310013.1:p.Asp156=