Canonical Allele Identifier: CA7725133

Gene: POLG POLGARF

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333424C>G , CM000677.2:g.89333424C>G	GRCh38
NC_000015.9:g.89876655C>G , CM000677.1:g.89876655C>G	GRCh37
NC_000015.8:g.87677659C>G	NCBI36
NG_008218.1:g.6372G>C
NG_008218.2:g.6372G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.331G>C (POLG) MANE Select	NP_002684.1:p.Gly111Arg
ENST00000268124.11:c.331G>C (POLG) MANE Select	ENSP00000268124.5:p.Gly111Arg
NM_001126131.1:c.331G>C (POLG)	NP_001119603.1:p.Gly111Arg
NM_001126131.2:c.331G>C (POLG)	NP_001119603.1:p.Gly111Arg
NM_002693.2:c.331G>C (POLG)	NP_002684.1:p.Gly111Arg
ENST00000268124.9:c.331G>C (POLG)	ENSP00000268124.5:p.Gly111Arg
ENST00000442287.6:c.331G>C (POLG)	ENSP00000399851.2:p.Gly111Arg
ENST00000631044.2:c.331G>C (POLG)	ENSP00000486730.1:p.Gly111Arg
ENST00000635986.2:c.331G>C (POLG)	ENSP00000490653.2:p.Gly111Arg
ENST00000636774.1:c.331G>C (POLG)	ENSP00000489799.1:p.Gly111Arg
ENST00000636937.2:c.331G>C (POLG)	ENSP00000516154.1:p.Gly111Arg
ENST00000650303.2:c.386G>C (POLG)	ENSP00000497242.2:p.Arg129Pro
ENST00000672071.1:n.529G>C (POLG)
ENST00000706918.1:c.386G>C (POLGARF)	ENSP00000516626.1:p.Arg129Pro