Canonical Allele Identifier: CA393749678
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318559A>C , CM000677.2:g.89318559A>C GRCh38
NC_000015.9:g.89861790A>C , CM000677.1:g.89861790A>C GRCh37
NC_000015.8:g.87662794A>C NCBI36
NG_008218.1:g.21237T>G
NG_011736.1:g.79597A>C , LRG_500:g.79597A>C
NG_008218.2:g.21237T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3464T>G ENSP00000516154.1:p.Ile1155Ser
ENST00000268124.11:c.3464T>G MANE Select ENSP00000268124.5:p.Ile1155Ser
ENST00000530292.3:c.3065T>G ENSP00000432885.2:p.Ile1022Ser
ENST00000635986.2:c.*534T>G ENSP00000490653.2:n.*534T>G
ENST00000636774.1:c.*2031T>G ENSP00000489799.1:n.*2031T>G
ENST00000637238.1:c.2273T>G ENSP00000490756.1:n.2273T>G
ENST00000637264.1:c.2536T>G
ENST00000666746.1:c.3041T>G
ENST00000672071.1:n.3662T>G
ENST00000672695.1:n.641T>G
ENST00000672923.2:n.3464T>G
ENST00000268124.9:c.3464T>G ENSP00000268124.5:p.Ile1155Ser
ENST00000442287.6:c.3464T>G ENSP00000399851.2:p.Ile1155Ser
ENST00000530292.2:c.548T>G ENSP00000432885.1:p.Ile183Ser
ENST00000631044.2:c.*2888T>G ENSP00000486730.1:n.*2888T>G
NM_001126131.1:c.3464T>G NP_001119603.1:p.Ile1155Ser
NM_002693.2:c.3464T>G NP_002684.1:p.Ile1155Ser
NM_001126131.2:c.3464T>G NP_001119603.1:p.Ile1155Ser
NM_002693.3:c.3464T>G MANE Select NP_002684.1:p.Ile1155Ser