Canonical Allele Identifier: CA2194565110

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330081C= , CM000677.2:g.89330081C=	GRCh38
NC_000015.9:g.89873312C= , CM000677.1:g.89873312C=	GRCh37
NC_000015.8:g.87674316C=	NCBI36
NG_008218.1:g.9715G=
NG_008218.2:g.9715G=

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.855G= MANE Select	NP_002684.1:p.Gln285=
ENST00000268124.11:c.855G= MANE Select	ENSP00000268124.5:p.Gln285=
NM_001126131.1:c.855G=	NP_001119603.1:p.Gln285=
NM_001126131.2:c.855G=	NP_001119603.1:p.Gln285=
NM_002693.2:c.855G=	NP_002684.1:p.Gln285=
ENST00000268124.9:c.855G=	ENSP00000268124.5:p.Gln285=
ENST00000442287.6:c.855G=	ENSP00000399851.2:p.Gln285=
ENST00000530292.3:c.456G=	ENSP00000432885.2:p.Gln152=
ENST00000631044.2:c.*238G=	ENSP00000486730.1:n.*238G=
ENST00000635986.2:c.855G=	ENSP00000490653.2:p.Gln285=
ENST00000636774.1:c.855G=	ENSP00000489799.1:p.Gln285=
ENST00000636937.2:c.855G=	ENSP00000516154.1:p.Gln285=
ENST00000666746.1:c.512G=
ENST00000672071.1:n.1053G=