Canonical Allele Identifier: CA376034047

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325695G>C (hg19) ; chr10:g.13283695G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283695G>C , CM000672.2:g.13283695G>C	GRCh38
NC_000010.10:g.13325695G>C , CM000672.1:g.13325695G>C	GRCh37
NC_000010.9:g.13365701G>C	NCBI36
NG_012862.1:g.21436C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.823C>G MANE Select	ENSP00000263038.4:p.Arg275Gly
ENST00000263038.8:c.823C>G	ENSP00000263038.4:p.Arg275Gly
ENST00000396913.6:c.523C>G	ENSP00000380121.2:p.Arg175Gly
ENST00000396920.7:c.772C>G	ENSP00000380126.3:p.Arg258Gly
ENST00000453759.6:c.523C>G	ENSP00000412525.2:p.Arg175Gly
NM_001037537.1:c.523C>G	NP_001032626.1:p.Arg175Gly
NM_006214.3:c.823C>G	NP_006205.1:p.Arg275Gly
XM_005252469.2:c.604C>G	XP_005252526.1:p.Arg202Gly
NM_001323080.1:c.523C>G	NP_001310009.1:p.Arg175Gly
NM_001323082.1:c.829C>G	NP_001310011.1:p.Arg277Gly
NM_001323083.1:c.559C>G	NP_001310012.1:p.Arg187Gly
NM_001323084.1:c.529C>G	NP_001310013.1:p.Arg177Gly
NM_006214.4:c.823C>G MANE Select	NP_006205.1:p.Arg275Gly
NM_001037537.2:c.523C>G	NP_001032626.1:p.Arg175Gly
NM_001323080.2:c.523C>G	NP_001310009.1:p.Arg175Gly
NM_001323082.2:c.829C>G	NP_001310011.1:p.Arg277Gly
NM_001323083.2:c.559C>G	NP_001310012.1:p.Arg187Gly
NM_001323084.2:c.529C>G	NP_001310013.1:p.Arg177Gly