Canonical Allele Identifier: CA393749734
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318587G>C , CM000677.2:g.89318587G>C GRCh38
NC_000015.9:g.89861818G>C , CM000677.1:g.89861818G>C GRCh37
NC_000015.8:g.87662822G>C NCBI36
NG_008218.1:g.21209C>G
NG_011736.1:g.79625G>C , LRG_500:g.79625G>C
NG_008218.2:g.21209C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.3436C>G ENSP00000516154.1:p.Arg1146Gly
ENST00000268124.11:c.3436C>G MANE Select ENSP00000268124.5:p.Arg1146Gly
ENST00000530292.3:c.3037C>G ENSP00000432885.2:p.Arg1013Gly
ENST00000635986.2:c.*506C>G ENSP00000490653.2:n.*506C>G
ENST00000636774.1:c.*2003C>G ENSP00000489799.1:n.*2003C>G
ENST00000637238.1:c.2245C>G ENSP00000490756.1:n.2245C>G
ENST00000637264.1:c.2508C>G
ENST00000666746.1:c.3013C>G
ENST00000672071.1:n.3634C>G
ENST00000672695.1:n.613C>G
ENST00000672923.2:n.3436C>G
ENST00000268124.9:c.3436C>G ENSP00000268124.5:p.Arg1146Gly
ENST00000442287.6:c.3436C>G ENSP00000399851.2:p.Arg1146Gly
ENST00000530292.2:c.520C>G ENSP00000432885.1:p.Arg174Gly
ENST00000631044.2:c.*2860C>G ENSP00000486730.1:n.*2860C>G
NM_001126131.1:c.3436C>G NP_001119603.1:p.Arg1146Gly
NM_002693.2:c.3436C>G NP_002684.1:p.Arg1146Gly
NM_001126131.2:c.3436C>G NP_001119603.1:p.Arg1146Gly
NM_002693.3:c.3436C>G MANE Select NP_002684.1:p.Arg1146Gly