Canonical Allele Identifier: CA376051244

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13323006G>C (hg19) ; chr10:g.13281006G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13281006G>C , CM000672.2:g.13281006G>C	GRCh38
NC_000010.10:g.13323006G>C , CM000672.1:g.13323006G>C	GRCh37
NC_000010.9:g.13363012G>C	NCBI36
NG_012862.1:g.24125C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.933C>G MANE Select	ENSP00000263038.4:p.Phe311Leu
ENST00000263038.8:c.933C>G	ENSP00000263038.4:p.Phe311Leu
ENST00000396913.6:c.633C>G	ENSP00000380121.2:p.Phe211Leu
ENST00000396920.7:c.882C>G	ENSP00000380126.3:p.Phe294Leu
NM_001037537.1:c.633C>G	NP_001032626.1:p.Phe211Leu
NM_006214.3:c.933C>G	NP_006205.1:p.Phe311Leu
XM_005252469.2:c.714C>G	XP_005252526.1:p.Phe238Leu
NM_001323080.1:c.633C>G	NP_001310009.1:p.Phe211Leu
NM_001323082.1:c.939C>G	NP_001310011.1:p.Phe313Leu
NM_001323083.1:c.669C>G	NP_001310012.1:p.Phe223Leu
NM_001323084.1:c.639C>G	NP_001310013.1:p.Phe213Leu
NM_006214.4:c.933C>G MANE Select	NP_006205.1:p.Phe311Leu
NM_001037537.2:c.633C>G	NP_001032626.1:p.Phe211Leu
NM_001323080.2:c.633C>G	NP_001310009.1:p.Phe211Leu
NM_001323082.2:c.939C>G	NP_001310011.1:p.Phe313Leu
NM_001323083.2:c.669C>G	NP_001310012.1:p.Phe223Leu
NM_001323084.2:c.639C>G	NP_001310013.1:p.Phe213Leu