Canonical Allele Identifier: CA376034077

Gene: PHYH

Linked Data

• MyVariant Identifiers: chr10:g.13325709T>C (hg19) ; chr10:g.13283709T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.13283709T>C , CM000672.2:g.13283709T>C	GRCh38
NC_000010.10:g.13325709T>C , CM000672.1:g.13325709T>C	GRCh37
NC_000010.9:g.13365715T>C	NCBI36
NG_012862.1:g.21422A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263038.9:c.809A>G MANE Select	ENSP00000263038.4:p.Lys270Arg
ENST00000263038.8:c.809A>G	ENSP00000263038.4:p.Lys270Arg
ENST00000396913.6:c.509A>G	ENSP00000380121.2:p.Lys170Arg
ENST00000396920.7:c.758A>G	ENSP00000380126.3:p.Lys253Arg
ENST00000453759.6:c.509A>G	ENSP00000412525.2:p.Lys170Arg
NM_001037537.1:c.509A>G	NP_001032626.1:p.Lys170Arg
NM_006214.3:c.809A>G	NP_006205.1:p.Lys270Arg
XM_005252469.2:c.590A>G	XP_005252526.1:p.Lys197Arg
NM_001323080.1:c.509A>G	NP_001310009.1:p.Lys170Arg
NM_001323082.1:c.815A>G	NP_001310011.1:p.Lys272Arg
NM_001323083.1:c.545A>G	NP_001310012.1:p.Lys182Arg
NM_001323084.1:c.515A>G	NP_001310013.1:p.Lys172Arg
NM_006214.4:c.809A>G MANE Select	NP_006205.1:p.Lys270Arg
NM_001037537.2:c.509A>G	NP_001032626.1:p.Lys170Arg
NM_001323080.2:c.509A>G	NP_001310009.1:p.Lys170Arg
NM_001323082.2:c.815A>G	NP_001310011.1:p.Lys272Arg
NM_001323083.2:c.545A>G	NP_001310012.1:p.Lys182Arg
NM_001323084.2:c.515A>G	NP_001310013.1:p.Lys172Arg