Canonical Allele Identifier: CA2194565727

Gene: POLG POLGARF

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330257G= , CM000677.2:g.89330257G=	GRCh38
NC_000015.9:g.89873488G= , CM000677.1:g.89873488G=	GRCh37
NC_000015.8:g.87674492G=	NCBI36
NG_008218.1:g.9539C=
NG_008218.2:g.9539C=

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.679C= (POLG) MANE Select	NP_002684.1:p.Arg227=
ENST00000268124.11:c.679C= (POLG) MANE Select	ENSP00000268124.5:p.Arg227=
NM_001126131.1:c.679C= (POLG)	NP_001119603.1:p.Arg227=
NM_001126131.2:c.679C= (POLG)	NP_001119603.1:p.Arg227=
NM_002693.2:c.679C= (POLG)	NP_002684.1:p.Arg227=
ENST00000268124.9:c.679C= (POLG)	ENSP00000268124.5:p.Arg227=
ENST00000442287.6:c.679C= (POLG)	ENSP00000399851.2:p.Arg227=
ENST00000530292.3:c.280C= (POLG)	ENSP00000432885.2:p.Arg94=
ENST00000631044.2:c.*62C= (POLG)	ENSP00000486730.1:n.*62C=
ENST00000635986.2:c.679C= (POLG)	ENSP00000490653.2:p.Arg227=
ENST00000636774.1:c.679C= (POLG)	ENSP00000489799.1:p.Arg227=
ENST00000636937.2:c.679C= (POLG)	ENSP00000516154.1:p.Arg227=
ENST00000637307.1:c.54C= (POLG)
ENST00000650303.2:c.734C= (POLG)	ENSP00000497242.2:p.Ala245=
ENST00000666746.1:c.336C= (POLG)
ENST00000672071.1:n.877C= (POLG)
ENST00000706918.1:c.734C= (POLGARF)	ENSP00000516626.1:p.Ala245=