Canonical Allele Identifier: CA376034076

Gene: PHYH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000263038.9:c.809A>C MANE Select	ENSP00000263038.4:p.Lys270Thr
ENST00000263038.8:c.809A>C	ENSP00000263038.4:p.Lys270Thr
ENST00000396913.6:c.509A>C	ENSP00000380121.2:p.Lys170Thr
ENST00000396920.7:c.758A>C	ENSP00000380126.3:p.Lys253Thr
ENST00000453759.6:c.509A>C	ENSP00000412525.2:p.Lys170Thr
NM_001037537.1:c.509A>C	NP_001032626.1:p.Lys170Thr
NM_006214.3:c.809A>C	NP_006205.1:p.Lys270Thr
XM_005252469.2:c.590A>C	XP_005252526.1:p.Lys197Thr
NM_001323080.1:c.509A>C	NP_001310009.1:p.Lys170Thr
NM_001323082.1:c.815A>C	NP_001310011.1:p.Lys272Thr
NM_001323083.1:c.545A>C	NP_001310012.1:p.Lys182Thr
NM_001323084.1:c.515A>C	NP_001310013.1:p.Lys172Thr
NM_006214.4:c.809A>C MANE Select	NP_006205.1:p.Lys270Thr
NM_001037537.2:c.509A>C	NP_001032626.1:p.Lys170Thr
NM_001323080.2:c.509A>C	NP_001310009.1:p.Lys170Thr
NM_001323082.2:c.815A>C	NP_001310011.1:p.Lys272Thr
NM_001323083.2:c.545A>C	NP_001310012.1:p.Lys182Thr
NM_001323084.2:c.515A>C	NP_001310013.1:p.Lys172Thr