Canonical Allele Identifier: CA2194565194

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330113G= , CM000677.2:g.89330113G=	GRCh38
NC_000015.9:g.89873344G= , CM000677.1:g.89873344G=	GRCh37
NC_000015.8:g.87674348G=	NCBI36
NG_008218.1:g.9683C=
NG_008218.2:g.9683C=

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.823C= MANE Select	NP_002684.1:p.Arg275=
ENST00000268124.11:c.823C= MANE Select	ENSP00000268124.5:p.Arg275=
NM_001126131.1:c.823C=	NP_001119603.1:p.Arg275=
NM_001126131.2:c.823C=	NP_001119603.1:p.Arg275=
NM_002693.2:c.823C=	NP_002684.1:p.Arg275=
ENST00000268124.9:c.823C=	ENSP00000268124.5:p.Arg275=
ENST00000442287.6:c.823C=	ENSP00000399851.2:p.Arg275=
ENST00000530292.3:c.424C=	ENSP00000432885.2:p.Arg142=
ENST00000631044.2:c.*206C=	ENSP00000486730.1:n.*206C=
ENST00000635986.2:c.823C=	ENSP00000490653.2:p.Arg275=
ENST00000636774.1:c.823C=	ENSP00000489799.1:p.Arg275=
ENST00000636937.2:c.823C=	ENSP00000516154.1:p.Arg275=
ENST00000666746.1:c.480C=
ENST00000672071.1:n.1021C=