Canonical Allele Identifier: CA2194539813
Gene: POLG HGNC NCBI

Linked Data

dbSNP Id: rs1326458248

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317645A>G , CM000677.2:g.89317645A>G GRCh38
NC_000015.9:g.89860876A>G , CM000677.1:g.89860876A>G GRCh37
NC_000015.8:g.87661880A>G NCBI36
NG_008218.1:g.22151T>C
NG_011736.1:g.78683A>G , LRG_500:g.78683A>G
NG_008218.2:g.22151T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3483-109T>C ENSP00000516154.1:n.3483-109T>C
ENST00000268124.11:c.3483-109T>C MANE Select ENSP00000268124.5:n.3483-109T>C
ENST00000530292.3:c.3183-109T>C ENSP00000432885.2:n.3183-109T>C
ENST00000635986.2:c.*553-109T>C ENSP00000490653.2:n.*553-109T>C
ENST00000636774.1:c.*2087-109T>C ENSP00000489799.1:n.*2087-109T>C
ENST00000637042.1:n.72-174T>C
ENST00000637238.1:c.2391-109T>C ENSP00000490756.1:n.2391-109T>C
ENST00000637264.1:c.2555-169T>C
ENST00000666746.1:c.3060-109T>C
ENST00000672071.1:n.4576T>C
ENST00000672695.1:n.1262-109T>C
ENST00000672923.2:n.3483-109T>C
ENST00000268124.9:c.3483-109T>C ENSP00000268124.5:n.3483-109T>C
ENST00000442287.6:c.3483-109T>C ENSP00000399851.2:n.3483-109T>C
ENST00000526671.1:n.184T>C
ENST00000530292.2:c.666-109T>C ENSP00000432885.1:n.666-109T>C
ENST00000631044.2:c.*2907-109T>C ENSP00000486730.1:n.*2907-109T>C
NM_001126131.1:c.3483-109T>C NP_001119603.1:n.3483-109T>C
NM_002693.2:c.3483-109T>C NP_002684.1:n.3483-109T>C
NM_001126131.2:c.3483-109T>C NP_001119603.1:n.3483-109T>C
NM_002693.3:c.3483-109T>C MANE Select NP_002684.1:n.3483-109T>C