Canonical Allele Identifier: CA2194542228

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318737G= , CM000677.2:g.89318737G=	GRCh38
NC_000015.9:g.89861968G= , CM000677.1:g.89861968G=	GRCh37
NC_000015.8:g.87662972G=	NCBI36
NG_008218.1:g.21059C=
NG_011736.1:g.79775G= , LRG_500:g.79775G=
NG_008218.2:g.21059C=

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3286C= MANE Select	NP_002684.1:p.Arg1096=
ENST00000268124.11:c.3286C= MANE Select	ENSP00000268124.5:p.Arg1096=
NM_001126131.1:c.3286C=	NP_001119603.1:p.Arg1096=
NM_001126131.2:c.3286C=	NP_001119603.1:p.Arg1096=
NM_002693.2:c.3286C=	NP_002684.1:p.Arg1096=
ENST00000268124.9:c.3286C=	ENSP00000268124.5:p.Arg1096=
ENST00000442287.6:c.3286C=	ENSP00000399851.2:p.Arg1096=
ENST00000530292.2:c.370C=	ENSP00000432885.1:p.Arg124=
ENST00000530292.3:c.2887C=	ENSP00000432885.2:p.Arg963=
ENST00000631044.2:c.*2710C=	ENSP00000486730.1:n.*2710C=
ENST00000635986.2:c.*356C=	ENSP00000490653.2:n.*356C=
ENST00000636774.1:c.*1853C=	ENSP00000489799.1:n.*1853C=
ENST00000636937.2:c.3286C=	ENSP00000516154.1:p.Arg1096=
ENST00000637238.1:c.2095C=	ENSP00000490756.1:n.2095C=
ENST00000637264.1:c.2358C=
ENST00000666746.1:c.2863C=
ENST00000672071.1:n.3484C=
ENST00000672695.1:n.463C=
ENST00000672923.2:n.3286C=