Canonical Allele Identifier: CA2194557203

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326998G= , CM000677.2:g.89326998G=	GRCh38
NC_000015.9:g.89870229G= , CM000677.1:g.89870229G=	GRCh37
NC_000015.8:g.87671233G=	NCBI36
NG_008218.1:g.12798C=
NG_008218.2:g.12798C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1499C=	ENSP00000516154.1:p.Ala500=
ENST00000268124.11:c.1499C= MANE Select	ENSP00000268124.5:p.Ala500=
ENST00000530292.3:c.1100C=	ENSP00000432885.2:p.Ala367=
ENST00000635986.2:c.1499C=	ENSP00000490653.2:p.Ala500=
ENST00000636774.1:c.*66C=	ENSP00000489799.1:n.*66C=
ENST00000637238.1:c.236C=	ENSP00000490756.1:p.Ala79=
ENST00000637264.1:c.571C=
ENST00000666746.1:c.1076C=
ENST00000672071.1:n.1697C=
ENST00000672923.2:n.1602C=
ENST00000268124.9:c.1499C=	ENSP00000268124.5:p.Ala500=
ENST00000442287.6:c.1499C=	ENSP00000399851.2:p.Ala500=
ENST00000631044.2:c.*882C=	ENSP00000486730.1:n.*882C=
NM_001126131.1:c.1499C=	NP_001119603.1:p.Ala500=
NM_002693.2:c.1499C=	NP_002684.1:p.Ala500=
NM_001126131.2:c.1499C=	NP_001119603.1:p.Ala500=
NM_002693.3:c.1499C= MANE Select	NP_002684.1:p.Ala500=