Canonical Allele Identifier: CA2194549956

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325500C= , CM000677.2:g.89325500C=	GRCh38
NC_000015.9:g.89868731C= , CM000677.1:g.89868731C=	GRCh37
NC_000015.8:g.87669735C=	NCBI36
NG_008218.1:g.14296G=
NG_008218.2:g.14296G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1899G=	ENSP00000516154.1:p.Lys633=
ENST00000268124.11:c.1899G= MANE Select	ENSP00000268124.5:p.Lys633=
ENST00000530292.3:c.1500G=	ENSP00000432885.2:p.Lys500=
ENST00000635986.2:c.1899G=	ENSP00000490653.2:p.Lys633=
ENST00000636774.1:c.*466G=	ENSP00000489799.1:n.*466G=
ENST00000637238.1:c.636G=	ENSP00000490756.1:p.Lys212=
ENST00000637264.1:c.971G=
ENST00000666746.1:c.1476G=
ENST00000670281.1:c.219G=	ENSP00000499709.1:p.Lys73=
ENST00000672071.1:n.2097G=
ENST00000672923.2:n.2002G=
ENST00000268124.9:c.1899G=	ENSP00000268124.5:p.Lys633=
ENST00000442287.6:c.1899G=	ENSP00000399851.2:p.Lys633=
ENST00000526314.2:c.281G=
ENST00000526398.1:c.88G=
ENST00000532584.5:n.101G=
ENST00000631044.2:c.*1282G=	ENSP00000486730.1:n.*1282G=
NM_001126131.1:c.1899G=	NP_001119603.1:p.Lys633=
NM_002693.2:c.1899G=	NP_002684.1:p.Lys633=
NM_001126131.2:c.1899G=	NP_001119603.1:p.Lys633=
NM_002693.3:c.1899G= MANE Select	NP_002684.1:p.Lys633=