Canonical Allele Identifier: CA393772269

Gene: POLG POLGARF

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333387A>C , CM000677.2:g.89333387A>C	GRCh38
NC_000015.9:g.89876618A>C , CM000677.1:g.89876618A>C	GRCh37
NC_000015.8:g.87677622A>C	NCBI36
NG_008218.1:g.6409T>G
NG_008218.2:g.6409T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.368T>G (POLG) MANE Select	NP_002684.1:p.Val123Gly
ENST00000268124.11:c.368T>G (POLG) MANE Select	ENSP00000268124.5:p.Val123Gly
NM_001126131.1:c.368T>G (POLG)	NP_001119603.1:p.Val123Gly
NM_001126131.2:c.368T>G (POLG)	NP_001119603.1:p.Val123Gly
NM_002693.2:c.368T>G (POLG)	NP_002684.1:p.Val123Gly
ENST00000268124.9:c.368T>G (POLG)	ENSP00000268124.5:p.Val123Gly
ENST00000442287.6:c.368T>G (POLG)	ENSP00000399851.2:p.Val123Gly
ENST00000631044.2:c.368T>G (POLG)	ENSP00000486730.1:p.Val123Gly
ENST00000635986.2:c.368T>G (POLG)	ENSP00000490653.2:p.Val123Gly
ENST00000636774.1:c.368T>G (POLG)	ENSP00000489799.1:p.Val123Gly
ENST00000636937.2:c.368T>G (POLG)	ENSP00000516154.1:p.Val123Gly
ENST00000650303.2:c.423T>G (POLG)	ENSP00000497242.2:p.Arg141=
ENST00000666746.1:c.25T>G (POLG)
ENST00000672071.1:n.566T>G (POLG)
ENST00000706918.1:c.423T>G (POLGARF)	ENSP00000516626.1:p.Arg141=