Canonical Allele Identifier: CA376034300

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325788C>T (hg19) ; chr10:g.13283788C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283788C>T , CM000672.2:g.13283788C>T	GRCh38
NC_000010.10:g.13325788C>T , CM000672.1:g.13325788C>T	GRCh37
NC_000010.9:g.13365794C>T	NCBI36
NG_012862.1:g.21343G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.730G>A MANE Select	ENSP00000263038.4:p.Ala244Thr
ENST00000263038.8:c.730G>A	ENSP00000263038.4:p.Ala244Thr
ENST00000396913.6:c.430G>A	ENSP00000380121.2:p.Ala144Thr
ENST00000396920.7:c.679G>A	ENSP00000380126.3:p.Ala227Thr
ENST00000453759.6:c.430G>A	ENSP00000412525.2:p.Ala144Thr
NM_001037537.1:c.430G>A	NP_001032626.1:p.Ala144Thr
NM_006214.3:c.730G>A	NP_006205.1:p.Ala244Thr
XM_005252469.2:c.511G>A	XP_005252526.1:p.Ala171Thr
NM_001323080.1:c.430G>A	NP_001310009.1:p.Ala144Thr
NM_001323082.1:c.736G>A	NP_001310011.1:p.Ala246Thr
NM_001323083.1:c.466G>A	NP_001310012.1:p.Ala156Thr
NM_001323084.1:c.436G>A	NP_001310013.1:p.Ala146Thr
NM_006214.4:c.730G>A MANE Select	NP_006205.1:p.Ala244Thr
NM_001037537.2:c.430G>A	NP_001032626.1:p.Ala144Thr
NM_001323080.2:c.430G>A	NP_001310009.1:p.Ala144Thr
NM_001323082.2:c.736G>A	NP_001310011.1:p.Ala246Thr
NM_001323083.2:c.466G>A	NP_001310012.1:p.Ala156Thr
NM_001323084.2:c.436G>A	NP_001310013.1:p.Ala146Thr