Canonical Allele Identifier: CA393765296
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328830A>C , CM000677.2:g.89328830A>C GRCh38
NC_000015.9:g.89872061A>C , CM000677.1:g.89872061A>C GRCh37
NC_000015.8:g.87673065A>C NCBI36
NG_008218.1:g.10966T>G
NG_008218.2:g.10966T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1025T>G ENSP00000516154.1:p.Ile342Ser
ENST00000268124.11:c.1025T>G MANE Select ENSP00000268124.5:p.Ile342Ser
ENST00000530292.3:c.626T>G ENSP00000432885.2:p.Ile209Ser
ENST00000635986.2:c.1025T>G ENSP00000490653.2:p.Ile342Ser
ENST00000636774.1:c.1025T>G ENSP00000489799.1:p.Ile342Ser
ENST00000637264.1:c.97T>G
ENST00000666746.1:c.682T>G
ENST00000672071.1:n.1223T>G
ENST00000672923.2:n.22T>G
ENST00000268124.9:c.1025T>G ENSP00000268124.5:p.Ile342Ser
ENST00000442287.6:c.1025T>G ENSP00000399851.2:p.Ile342Ser
ENST00000631044.2:c.*408T>G ENSP00000486730.1:n.*408T>G
NM_001126131.1:c.1025T>G NP_001119603.1:p.Ile342Ser
NM_002693.2:c.1025T>G NP_002684.1:p.Ile342Ser
NM_001126131.2:c.1025T>G NP_001119603.1:p.Ile342Ser
NM_002693.3:c.1025T>G MANE Select NP_002684.1:p.Ile342Ser