Canonical Allele Identifier: CA2194547989

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320924G= , CM000677.2:g.89320924G=	GRCh38
NC_000015.9:g.89864155G= , CM000677.1:g.89864155G=	GRCh37
NC_000015.8:g.87665159G=	NCBI36
NG_008218.1:g.18872C=
NG_008218.2:g.18872C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2823C=	ENSP00000516154.1:p.Ile941=
ENST00000268124.11:c.2823C= MANE Select	ENSP00000268124.5:p.Ile941=
ENST00000530292.3:c.2424C=	ENSP00000432885.2:p.Ile808=
ENST00000635986.2:c.2823C=	ENSP00000490653.2:p.Ile941=
ENST00000636774.1:c.*1390C=	ENSP00000489799.1:n.*1390C=
ENST00000637238.1:c.1632C=	ENSP00000490756.1:n.1632C=
ENST00000637264.1:c.1895C=
ENST00000666746.1:c.2400C=
ENST00000670281.1:c.800+1038C=	ENSP00000499709.1:n.800+1038C=
ENST00000672071.1:n.3021C=
ENST00000672923.2:n.2765C=
ENST00000268124.9:c.2823C=	ENSP00000268124.5:p.Ile941=
ENST00000442287.6:c.2823C=	ENSP00000399851.2:p.Ile941=
ENST00000528881.2:c.420C=
ENST00000530715.5:c.186-55C=	ENSP00000431395.1:n.186-55C=
ENST00000631044.2:c.*2247C=	ENSP00000486730.1:n.*2247C=
NM_001126131.1:c.2823C=	NP_001119603.1:p.Ile941=
NM_002693.2:c.2823C=	NP_002684.1:p.Ile941=
NM_001126131.2:c.2823C=	NP_001119603.1:p.Ile941=
NM_002693.3:c.2823C= MANE Select	NP_002684.1:p.Ile941=