Canonical Allele Identifier: CA393748222
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317535A>C , CM000677.2:g.89317535A>C GRCh38
NC_000015.9:g.89860766A>C , CM000677.1:g.89860766A>C GRCh37
NC_000015.8:g.87661770A>C NCBI36
NG_008218.1:g.22261T>G
NG_011736.1:g.78573A>C , LRG_500:g.78573A>C
NG_008218.2:g.22261T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3484T>G ENSP00000516154.1:p.Cys1162Gly
ENST00000268124.11:c.3484T>G MANE Select ENSP00000268124.5:p.Cys1162Gly
ENST00000530292.3:c.3184T>G ENSP00000432885.2:n.3184T>G
ENST00000635986.2:c.*554T>G ENSP00000490653.2:n.*554T>G
ENST00000636774.1:c.*2088T>G ENSP00000489799.1:n.*2088T>G
ENST00000637042.1:n.72-64T>G
ENST00000637238.1:c.2392T>G ENSP00000490756.1:n.2392T>G
ENST00000637264.1:c.2555-59T>G
ENST00000666746.1:c.3061T>G
ENST00000672071.1:n.4686T>G
ENST00000672695.1:n.1263T>G
ENST00000672923.2:n.3484T>G
ENST00000268124.9:c.3484T>G ENSP00000268124.5:p.Cys1162Gly
ENST00000442287.6:c.3484T>G ENSP00000399851.2:p.Cys1162Gly
ENST00000526671.1:n.294T>G
ENST00000530292.2:c.667T>G ENSP00000432885.1:n.667T>G
ENST00000631044.2:c.*2908T>G ENSP00000486730.1:n.*2908T>G
NM_001126131.1:c.3484T>G NP_001119603.1:p.Cys1162Gly
NM_002693.2:c.3484T>G NP_002684.1:p.Cys1162Gly
NM_001126131.2:c.3484T>G NP_001119603.1:p.Cys1162Gly
NM_002693.3:c.3484T>G MANE Select NP_002684.1:p.Cys1162Gly