Canonical Allele Identifier: CA2194550199

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325550G= , CM000677.2:g.89325550G=	GRCh38
NC_000015.9:g.89868781G= , CM000677.1:g.89868781G=	GRCh37
NC_000015.8:g.87669785G=	NCBI36
NG_008218.1:g.14246C=
NG_008218.2:g.14246C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1849C=	ENSP00000516154.1:p.Arg617=
ENST00000268124.11:c.1849C= MANE Select	ENSP00000268124.5:p.Arg617=
ENST00000530292.3:c.1450C=	ENSP00000432885.2:p.Arg484=
ENST00000635986.2:c.1849C=	ENSP00000490653.2:p.Arg617=
ENST00000636774.1:c.*416C=	ENSP00000489799.1:n.*416C=
ENST00000637238.1:c.586C=	ENSP00000490756.1:p.Arg196=
ENST00000637264.1:c.921C=
ENST00000666746.1:c.1426C=
ENST00000670281.1:c.169C=	ENSP00000499709.1:p.Arg57=
ENST00000672071.1:n.2047C=
ENST00000672923.2:n.1952C=
ENST00000268124.9:c.1849C=	ENSP00000268124.5:p.Arg617=
ENST00000442287.6:c.1849C=	ENSP00000399851.2:p.Arg617=
ENST00000526314.2:c.231C=
ENST00000526398.1:c.38C=
ENST00000532584.5:n.51C=
ENST00000631044.2:c.*1232C=	ENSP00000486730.1:n.*1232C=
NM_001126131.1:c.1849C=	NP_001119603.1:p.Arg617=
NM_002693.2:c.1849C=	NP_002684.1:p.Arg617=
NM_001126131.2:c.1849C=	NP_001119603.1:p.Arg617=
NM_002693.3:c.1849C= MANE Select	NP_002684.1:p.Arg617=