Canonical Allele Identifier: CA2194555539

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323482C= , CM000677.2:g.89323482C=	GRCh38
NC_000015.9:g.89866713C= , CM000677.1:g.89866713C=	GRCh37
NC_000015.8:g.87667717C=	NCBI36
NG_008218.1:g.16314G=
NG_008218.2:g.16314G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2187G=	ENSP00000516154.1:p.Gln729=
ENST00000268124.11:c.2187G= MANE Select	ENSP00000268124.5:p.Gln729=
ENST00000530292.3:c.1788G=	ENSP00000432885.2:p.Gln596=
ENST00000635986.2:c.2187G=	ENSP00000490653.2:p.Gln729=
ENST00000636774.1:c.*754G=	ENSP00000489799.1:n.*754G=
ENST00000637238.1:c.884G=	ENSP00000490756.1:n.884G=
ENST00000637264.1:c.1259G=
ENST00000666746.1:c.1764G=
ENST00000670281.1:c.507G=	ENSP00000499709.1:p.Gln169=
ENST00000672071.1:n.2385G=
ENST00000672923.2:n.2290G=
ENST00000268124.9:c.2187G=	ENSP00000268124.5:p.Gln729=
ENST00000442287.6:c.2187G=	ENSP00000399851.2:p.Gln729=
ENST00000526314.2:c.539+333G=
ENST00000526398.1:c.336G=
ENST00000532584.5:n.389G=
ENST00000631044.2:c.*1611G=	ENSP00000486730.1:n.*1611G=
NM_001126131.1:c.2187G=	NP_001119603.1:p.Gln729=
NM_002693.2:c.2187G=	NP_002684.1:p.Gln729=
NM_001126131.2:c.2187G=	NP_001119603.1:p.Gln729=
NM_002693.3:c.2187G= MANE Select	NP_002684.1:p.Gln729=