Canonical Allele Identifier: CA2194550389

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325610G= , CM000677.2:g.89325610G=	GRCh38
NC_000015.9:g.89868841G= , CM000677.1:g.89868841G=	GRCh37
NC_000015.8:g.87669845G=	NCBI36
NG_008218.1:g.14186C=
NG_008218.2:g.14186C=

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1789C= MANE Select	NP_002684.1:p.Arg597=
ENST00000268124.11:c.1789C= MANE Select	ENSP00000268124.5:p.Arg597=
NM_001126131.1:c.1789C=	NP_001119603.1:p.Arg597=
NM_001126131.2:c.1789C=	NP_001119603.1:p.Arg597=
NM_002693.2:c.1789C=	NP_002684.1:p.Arg597=
ENST00000268124.9:c.1789C=	ENSP00000268124.5:p.Arg597=
ENST00000442287.6:c.1789C=	ENSP00000399851.2:p.Arg597=
ENST00000526314.2:c.171C=
ENST00000530292.3:c.1390C=	ENSP00000432885.2:p.Arg464=
ENST00000631044.2:c.*1172C=	ENSP00000486730.1:n.*1172C=
ENST00000635986.2:c.1789C=	ENSP00000490653.2:p.Arg597=
ENST00000636774.1:c.*356C=	ENSP00000489799.1:n.*356C=
ENST00000636937.2:c.1789C=	ENSP00000516154.1:p.Arg597=
ENST00000637238.1:c.526C=	ENSP00000490756.1:p.Arg176=
ENST00000637264.1:c.861C=
ENST00000666746.1:c.1366C=
ENST00000670281.1:c.109C=	ENSP00000499709.1:p.Arg37=
ENST00000672071.1:n.1987C=
ENST00000672923.2:n.1892C=