Canonical Allele Identifier: CA2194565550

Gene: POLG POLGARF

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330221G= , CM000677.2:g.89330221G=	GRCh38
NC_000015.9:g.89873452G= , CM000677.1:g.89873452G=	GRCh37
NC_000015.8:g.87674456G=	NCBI36
NG_008218.1:g.9575C=
NG_008218.2:g.9575C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.715C= (POLG)	ENSP00000516154.1:p.Leu239=
ENST00000706918.1:c.770C= (POLGARF)	ENSP00000516626.1:p.Ala257=
ENST00000268124.11:c.715C= (POLG) MANE Select	ENSP00000268124.5:p.Leu239=
ENST00000530292.3:c.316C= (POLG)	ENSP00000432885.2:p.Leu106=
ENST00000635986.2:c.715C= (POLG)	ENSP00000490653.2:p.Leu239=
ENST00000636774.1:c.715C= (POLG)	ENSP00000489799.1:p.Leu239=
ENST00000637307.1:c.90C= (POLG)
ENST00000650303.2:c.770C= (POLG)	ENSP00000497242.2:p.Ala257=
ENST00000666746.1:c.372C= (POLG)
ENST00000672071.1:n.913C= (POLG)
ENST00000268124.9:c.715C= (POLG)	ENSP00000268124.5:p.Leu239=
ENST00000442287.6:c.715C= (POLG)	ENSP00000399851.2:p.Leu239=
ENST00000631044.2:c.*98C= (POLG)	ENSP00000486730.1:n.*98C=
NM_001126131.1:c.715C= (POLG)	NP_001119603.1:p.Leu239=
NM_002693.2:c.715C= (POLG)	NP_002684.1:p.Leu239=
NM_001126131.2:c.715C= (POLG)	NP_001119603.1:p.Leu239=
NM_002693.3:c.715C= (POLG) MANE Select	NP_002684.1:p.Leu239=