Canonical Allele Identifier: CA376034141

Gene: PHYH

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283737A>T , CM000672.2:g.13283737A>T	GRCh38
NC_000010.10:g.13325737A>T , CM000672.1:g.13325737A>T	GRCh37
NC_000010.9:g.13365743A>T	NCBI36
NG_012862.1:g.21394T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006214.4:c.781T>A MANE Select	NP_006205.1:p.Leu261Met
ENST00000263038.9:c.781T>A MANE Select	ENSP00000263038.4:p.Leu261Met
NM_001037537.1:c.481T>A	NP_001032626.1:p.Leu161Met
NM_001037537.2:c.481T>A	NP_001032626.1:p.Leu161Met
NM_001323080.1:c.481T>A	NP_001310009.1:p.Leu161Met
NM_001323080.2:c.481T>A	NP_001310009.1:p.Leu161Met
NM_001323082.1:c.787T>A	NP_001310011.1:p.Leu263Met
NM_001323082.2:c.787T>A	NP_001310011.1:p.Leu263Met
NM_001323083.1:c.517T>A	NP_001310012.1:p.Leu173Met
NM_001323083.2:c.517T>A	NP_001310012.1:p.Leu173Met
NM_001323084.1:c.487T>A	NP_001310013.1:p.Leu163Met
NM_001323084.2:c.487T>A	NP_001310013.1:p.Leu163Met
NM_006214.3:c.781T>A	NP_006205.1:p.Leu261Met
ENST00000263038.8:c.781T>A	ENSP00000263038.4:p.Leu261Met
ENST00000396913.6:c.481T>A	ENSP00000380121.2:p.Leu161Met
ENST00000396920.7:c.730T>A	ENSP00000380126.3:p.Leu244Met
ENST00000453759.6:c.481T>A	ENSP00000412525.2:p.Leu161Met
XM_005252469.2:c.562T>A	XP_005252526.1:p.Leu188Met