Canonical Allele Identifier: CA393756696
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323438A>C , CM000677.2:g.89323438A>C GRCh38
NC_000015.9:g.89866669A>C , CM000677.1:g.89866669A>C GRCh37
NC_000015.8:g.87667673A>C NCBI36
NG_008218.1:g.16358T>G
NG_008218.2:g.16358T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2231T>G ENSP00000516154.1:p.Ile744Ser
ENST00000268124.11:c.2231T>G MANE Select ENSP00000268124.5:p.Ile744Ser
ENST00000530292.3:c.1832T>G ENSP00000432885.2:p.Ile611Ser
ENST00000635986.2:c.2231T>G ENSP00000490653.2:p.Ile744Ser
ENST00000636774.1:c.*798T>G ENSP00000489799.1:n.*798T>G
ENST00000637238.1:c.928T>G ENSP00000490756.1:n.928T>G
ENST00000637264.1:c.1303T>G
ENST00000666746.1:c.1808T>G
ENST00000670281.1:c.551T>G ENSP00000499709.1:p.Ile184Ser
ENST00000672071.1:n.2429T>G
ENST00000672923.2:n.2334T>G
ENST00000268124.9:c.2231T>G ENSP00000268124.5:p.Ile744Ser
ENST00000442287.6:c.2231T>G ENSP00000399851.2:p.Ile744Ser
ENST00000526314.2:c.539+377T>G
ENST00000526398.1:c.380T>G
ENST00000532584.5:n.433T>G
ENST00000631044.2:c.*1655T>G ENSP00000486730.1:n.*1655T>G
NM_001126131.1:c.2231T>G NP_001119603.1:p.Ile744Ser
NM_002693.2:c.2231T>G NP_002684.1:p.Ile744Ser
NM_001126131.2:c.2231T>G NP_001119603.1:p.Ile744Ser
NM_002693.3:c.2231T>G MANE Select NP_002684.1:p.Ile744Ser