Canonical Allele Identifier: CA376034113

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325725C>G (hg19) ; chr10:g.13283725C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283725C>G , CM000672.2:g.13283725C>G	GRCh38
NC_000010.10:g.13325725C>G , CM000672.1:g.13325725C>G	GRCh37
NC_000010.9:g.13365731C>G	NCBI36
NG_012862.1:g.21406G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.793G>C MANE Select	ENSP00000263038.4:p.Gly265Arg
ENST00000263038.8:c.793G>C	ENSP00000263038.4:p.Gly265Arg
ENST00000396913.6:c.493G>C	ENSP00000380121.2:p.Gly165Arg
ENST00000396920.7:c.742G>C	ENSP00000380126.3:p.Gly248Arg
ENST00000453759.6:c.493G>C	ENSP00000412525.2:p.Gly165Arg
NM_001037537.1:c.493G>C	NP_001032626.1:p.Gly165Arg
NM_006214.3:c.793G>C	NP_006205.1:p.Gly265Arg
XM_005252469.2:c.574G>C	XP_005252526.1:p.Gly192Arg
NM_001323080.1:c.493G>C	NP_001310009.1:p.Gly165Arg
NM_001323082.1:c.799G>C	NP_001310011.1:p.Gly267Arg
NM_001323083.1:c.529G>C	NP_001310012.1:p.Gly177Arg
NM_001323084.1:c.499G>C	NP_001310013.1:p.Gly167Arg
NM_006214.4:c.793G>C MANE Select	NP_006205.1:p.Gly265Arg
NM_001037537.2:c.493G>C	NP_001032626.1:p.Gly165Arg
NM_001323080.2:c.493G>C	NP_001310009.1:p.Gly165Arg
NM_001323082.2:c.799G>C	NP_001310011.1:p.Gly267Arg
NM_001323083.2:c.529G>C	NP_001310012.1:p.Gly177Arg
NM_001323084.2:c.499G>C	NP_001310013.1:p.Gly167Arg