Canonical Allele Identifier: CA376051681

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13281109G>T , CM000672.2:g.13281109G>T	GRCh38
NC_000010.10:g.13323109G>T , CM000672.1:g.13323109G>T	GRCh37
NC_000010.9:g.13363115G>T	NCBI36
NG_012862.1:g.24022C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006214.4:c.830C>A MANE Select	NP_006205.1:p.Ala277Glu
ENST00000263038.9:c.830C>A MANE Select	ENSP00000263038.4:p.Ala277Glu
NM_001037537.1:c.530C>A	NP_001032626.1:p.Ala177Glu
NM_001037537.2:c.530C>A	NP_001032626.1:p.Ala177Glu
NM_001323080.1:c.530C>A	NP_001310009.1:p.Ala177Glu
NM_001323080.2:c.530C>A	NP_001310009.1:p.Ala177Glu
NM_001323082.1:c.836C>A	NP_001310011.1:p.Ala279Glu
NM_001323082.2:c.836C>A	NP_001310011.1:p.Ala279Glu
NM_001323083.1:c.566C>A	NP_001310012.1:p.Ala189Glu
NM_001323083.2:c.566C>A	NP_001310012.1:p.Ala189Glu
NM_001323084.1:c.536C>A	NP_001310013.1:p.Ala179Glu
NM_001323084.2:c.536C>A	NP_001310013.1:p.Ala179Glu
NM_006214.3:c.830C>A	NP_006205.1:p.Ala277Glu
ENST00000263038.8:c.830C>A	ENSP00000263038.4:p.Ala277Glu
ENST00000396913.6:c.530C>A	ENSP00000380121.2:p.Ala177Glu
ENST00000396920.7:c.779C>A	ENSP00000380126.3:p.Ala260Glu
XM_005252469.2:c.611C>A	XP_005252526.1:p.Ala204Glu