Canonical Allele Identifier: CA376034217

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325768C>T (hg19) ; chr10:g.13283768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283768C>T , CM000672.2:g.13283768C>T	GRCh38
NC_000010.10:g.13325768C>T , CM000672.1:g.13325768C>T	GRCh37
NC_000010.9:g.13365774C>T	NCBI36
NG_012862.1:g.21363G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.750G>A MANE Select	ENSP00000263038.4:p.Met250Ile
ENST00000263038.8:c.750G>A	ENSP00000263038.4:p.Met250Ile
ENST00000396913.6:c.450G>A	ENSP00000380121.2:p.Met150Ile
ENST00000396920.7:c.699G>A	ENSP00000380126.3:p.Met233Ile
ENST00000453759.6:c.450G>A	ENSP00000412525.2:p.Met150Ile
NM_001037537.1:c.450G>A	NP_001032626.1:p.Met150Ile
NM_006214.3:c.750G>A	NP_006205.1:p.Met250Ile
XM_005252469.2:c.531G>A	XP_005252526.1:p.Met177Ile
NM_001323080.1:c.450G>A	NP_001310009.1:p.Met150Ile
NM_001323082.1:c.756G>A	NP_001310011.1:p.Met252Ile
NM_001323083.1:c.486G>A	NP_001310012.1:p.Met162Ile
NM_001323084.1:c.456G>A	NP_001310013.1:p.Met152Ile
NM_006214.4:c.750G>A MANE Select	NP_006205.1:p.Met250Ile
NM_001037537.2:c.450G>A	NP_001032626.1:p.Met150Ile
NM_001323080.2:c.450G>A	NP_001310009.1:p.Met150Ile
NM_001323082.2:c.756G>A	NP_001310011.1:p.Met252Ile
NM_001323083.2:c.486G>A	NP_001310012.1:p.Met162Ile
NM_001323084.2:c.456G>A	NP_001310013.1:p.Met152Ile