Canonical Allele Identifier: CA393747544
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317457A>C , CM000677.2:g.89317457A>C GRCh38
NC_000015.9:g.89860688A>C , CM000677.1:g.89860688A>C GRCh37
NC_000015.8:g.87661692A>C NCBI36
NG_008218.1:g.22339T>G
NG_011736.1:g.78495A>C , LRG_500:g.78495A>C
NG_008218.2:g.22339T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3562T>G ENSP00000516154.1:p.Cys1188Gly
ENST00000268124.11:c.3562T>G MANE Select ENSP00000268124.5:p.Cys1188Gly
ENST00000530292.3:c.3262T>G ENSP00000432885.2:n.3262T>G
ENST00000635986.2:c.*632T>G ENSP00000490653.2:n.*632T>G
ENST00000636774.1:c.*2166T>G ENSP00000489799.1:n.*2166T>G
ENST00000637042.1:n.86T>G
ENST00000637238.1:c.2470T>G ENSP00000490756.1:n.2470T>G
ENST00000637264.1:c.2574T>G
ENST00000666746.1:c.3139T>G
ENST00000672071.1:n.4764T>G
ENST00000672695.1:n.1341T>G
ENST00000672923.2:n.3562T>G
ENST00000268124.9:c.3562T>G ENSP00000268124.5:p.Cys1188Gly
ENST00000442287.6:c.3562T>G ENSP00000399851.2:p.Cys1188Gly
ENST00000526671.1:n.372T>G
ENST00000530292.2:c.745T>G ENSP00000432885.1:n.745T>G
ENST00000631044.2:c.*2986T>G ENSP00000486730.1:n.*2986T>G
NM_001126131.1:c.3562T>G NP_001119603.1:p.Cys1188Gly
NM_002693.2:c.3562T>G NP_002684.1:p.Cys1188Gly
NM_001126131.2:c.3562T>G NP_001119603.1:p.Cys1188Gly
NM_002693.3:c.3562T>G MANE Select NP_002684.1:p.Cys1188Gly