Canonical Allele Identifier: CA2194555552

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323486G= , CM000677.2:g.89323486G=	GRCh38
NC_000015.9:g.89866717G= , CM000677.1:g.89866717G=	GRCh37
NC_000015.8:g.87667721G=	NCBI36
NG_008218.1:g.16310C=
NG_008218.2:g.16310C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2183C=	ENSP00000516154.1:p.Thr728=
ENST00000268124.11:c.2183C= MANE Select	ENSP00000268124.5:p.Thr728=
ENST00000530292.3:c.1784C=	ENSP00000432885.2:p.Thr595=
ENST00000635986.2:c.2183C=	ENSP00000490653.2:p.Thr728=
ENST00000636774.1:c.*750C=	ENSP00000489799.1:n.*750C=
ENST00000637238.1:c.880C=	ENSP00000490756.1:n.880C=
ENST00000637264.1:c.1255C=
ENST00000666746.1:c.1760C=
ENST00000670281.1:c.503C=	ENSP00000499709.1:p.Thr168=
ENST00000672071.1:n.2381C=
ENST00000672923.2:n.2286C=
ENST00000268124.9:c.2183C=	ENSP00000268124.5:p.Thr728=
ENST00000442287.6:c.2183C=	ENSP00000399851.2:p.Thr728=
ENST00000526314.2:c.539+329C=
ENST00000526398.1:c.332C=
ENST00000532584.5:n.385C=
ENST00000631044.2:c.*1607C=	ENSP00000486730.1:n.*1607C=
NM_001126131.1:c.2183C=	NP_001119603.1:p.Thr728=
NM_002693.2:c.2183C=	NP_002684.1:p.Thr728=
NM_001126131.2:c.2183C=	NP_001119603.1:p.Thr728=
NM_002693.3:c.2183C= MANE Select	NP_002684.1:p.Thr728=