Canonical Allele Identifier: CA10602235

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321253C>T , CM000677.2:g.89321253C>T	GRCh38
NC_000015.9:g.89864484C>T , CM000677.1:g.89864484C>T	GRCh37
NC_000015.8:g.87665488C>T	NCBI36
NG_008218.1:g.18543G>A
NG_008218.2:g.18543G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2606G>A	ENSP00000516154.1:p.Arg869Gln
ENST00000268124.11:c.2606G>A MANE Select	ENSP00000268124.5:p.Arg869Gln
ENST00000530292.3:c.2207G>A	ENSP00000432885.2:p.Arg736Gln
ENST00000635986.2:c.2606G>A	ENSP00000490653.2:p.Arg869Gln
ENST00000636774.1:c.*1173G>A	ENSP00000489799.1:n.*1173G>A
ENST00000637238.1:c.1303G>A	ENSP00000490756.1:n.1303G>A
ENST00000637264.1:c.1678G>A
ENST00000666746.1:c.2183G>A
ENST00000670281.1:c.800+709G>A	ENSP00000499709.1:n.800+709G>A
ENST00000672071.1:n.2804G>A
ENST00000672923.2:n.2548G>A
ENST00000268124.9:c.2606G>A	ENSP00000268124.5:p.Arg869Gln
ENST00000442287.6:c.2606G>A	ENSP00000399851.2:p.Arg869Gln
ENST00000528881.2:c.203G>A
ENST00000530715.5:c.186-384G>A	ENSP00000431395.1:n.186-384G>A
ENST00000631044.2:c.*2030G>A	ENSP00000486730.1:n.*2030G>A
NM_001126131.1:c.2606G>A	NP_001119603.1:p.Arg869Gln
NM_002693.2:c.2606G>A	NP_002684.1:p.Arg869Gln
NM_001126131.2:c.2606G>A	NP_001119603.1:p.Arg869Gln
NM_002693.3:c.2606G>A MANE Select	NP_002684.1:p.Arg869Gln