Canonical Allele Identifier: CA10602300

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330112C>T , CM000677.2:g.89330112C>T	GRCh38
NC_000015.9:g.89873343C>T , CM000677.1:g.89873343C>T	GRCh37
NC_000015.8:g.87674347C>T	NCBI36
NG_008218.1:g.9684G>A
NG_008218.2:g.9684G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.824G>A MANE Select	NP_002684.1:p.Arg275Gln
ENST00000268124.11:c.824G>A MANE Select	ENSP00000268124.5:p.Arg275Gln
NM_001126131.1:c.824G>A	NP_001119603.1:p.Arg275Gln
NM_001126131.2:c.824G>A	NP_001119603.1:p.Arg275Gln
NM_002693.2:c.824G>A	NP_002684.1:p.Arg275Gln
ENST00000268124.9:c.824G>A	ENSP00000268124.5:p.Arg275Gln
ENST00000442287.6:c.824G>A	ENSP00000399851.2:p.Arg275Gln
ENST00000530292.3:c.425G>A	ENSP00000432885.2:p.Arg142Gln
ENST00000631044.2:c.*207G>A	ENSP00000486730.1:n.*207G>A
ENST00000635986.2:c.824G>A	ENSP00000490653.2:p.Arg275Gln
ENST00000636774.1:c.824G>A	ENSP00000489799.1:p.Arg275Gln
ENST00000636937.2:c.824G>A	ENSP00000516154.1:p.Arg275Gln
ENST00000666746.1:c.481G>A
ENST00000672071.1:n.1022G>A