Canonical Allele Identifier: CA10602205

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325537C>T , CM000677.2:g.89325537C>T	GRCh38
NC_000015.9:g.89868768C>T , CM000677.1:g.89868768C>T	GRCh37
NC_000015.8:g.87669772C>T	NCBI36
NG_008218.1:g.14259G>A
NG_008218.2:g.14259G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1862G>A MANE Select	NP_002684.1:p.Gly621Asp
ENST00000268124.11:c.1862G>A MANE Select	ENSP00000268124.5:p.Gly621Asp
NM_001126131.1:c.1862G>A	NP_001119603.1:p.Gly621Asp
NM_001126131.2:c.1862G>A	NP_001119603.1:p.Gly621Asp
NM_002693.2:c.1862G>A	NP_002684.1:p.Gly621Asp
ENST00000268124.9:c.1862G>A	ENSP00000268124.5:p.Gly621Asp
ENST00000442287.6:c.1862G>A	ENSP00000399851.2:p.Gly621Asp
ENST00000526314.2:c.244G>A
ENST00000526398.1:c.51G>A
ENST00000530292.3:c.1463G>A	ENSP00000432885.2:p.Gly488Asp
ENST00000532584.5:n.64G>A
ENST00000631044.2:c.*1245G>A	ENSP00000486730.1:n.*1245G>A
ENST00000635986.2:c.1862G>A	ENSP00000490653.2:p.Gly621Asp
ENST00000636774.1:c.*429G>A	ENSP00000489799.1:n.*429G>A
ENST00000636937.2:c.1862G>A	ENSP00000516154.1:p.Gly621Asp
ENST00000637238.1:c.599G>A	ENSP00000490756.1:p.Gly200Asp
ENST00000637264.1:c.934G>A
ENST00000666746.1:c.1439G>A
ENST00000670281.1:c.182G>A	ENSP00000499709.1:p.Gly61Asp
ENST00000672071.1:n.2060G>A
ENST00000672923.2:n.1965G>A