Canonical Allele Identifier: CA376051230

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13323003A>T (hg19) ; chr10:g.13281003A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13281003A>T , CM000672.2:g.13281003A>T	GRCh38
NC_000010.10:g.13323003A>T , CM000672.1:g.13323003A>T	GRCh37
NC_000010.9:g.13363009A>T	NCBI36
NG_012862.1:g.24128T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.936T>A MANE Select	ENSP00000263038.4:p.Phe312Leu
ENST00000263038.8:c.936T>A	ENSP00000263038.4:p.Phe312Leu
ENST00000396913.6:c.636T>A	ENSP00000380121.2:p.Phe212Leu
ENST00000396920.7:c.885T>A	ENSP00000380126.3:p.Phe295Leu
NM_001037537.1:c.636T>A	NP_001032626.1:p.Phe212Leu
NM_006214.3:c.936T>A	NP_006205.1:p.Phe312Leu
XM_005252469.2:c.717T>A	XP_005252526.1:p.Phe239Leu
NM_001323080.1:c.636T>A	NP_001310009.1:p.Phe212Leu
NM_001323082.1:c.942T>A	NP_001310011.1:p.Phe314Leu
NM_001323083.1:c.672T>A	NP_001310012.1:p.Phe224Leu
NM_001323084.1:c.642T>A	NP_001310013.1:p.Phe214Leu
NM_006214.4:c.936T>A MANE Select	NP_006205.1:p.Phe312Leu
NM_001037537.2:c.636T>A	NP_001032626.1:p.Phe212Leu
NM_001323080.2:c.636T>A	NP_001310009.1:p.Phe212Leu
NM_001323082.2:c.942T>A	NP_001310011.1:p.Phe314Leu
NM_001323083.2:c.672T>A	NP_001310012.1:p.Phe224Leu
NM_001323084.2:c.642T>A	NP_001310013.1:p.Phe214Leu