Canonical Allele Identifier: CA10602278
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 372866
ClinVar RCV Id: RCV000414416 RCV000758490
dbSNP Id: rs1057518035
gnomAD v4: 15-89317538-T-C
MyVariant Identifiers: chr15:g.89860769T>C (hg19) chr15:g.89317538T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317538T>C , CM000677.2:g.89317538T>C GRCh38
NC_000015.9:g.89860769T>C , CM000677.1:g.89860769T>C GRCh37
NC_000015.8:g.87661773T>C NCBI36
NG_008218.1:g.22258A>G
NG_011736.1:g.78576T>C , LRG_500:g.78576T>C
NG_008218.2:g.22258A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.3483-2A>G ENSP00000516154.1:n.3483-2A>G
ENST00000268124.11:c.3483-2A>G MANE Select ENSP00000268124.5:n.3483-2A>G
ENST00000530292.3:c.3183-2A>G ENSP00000432885.2:n.3183-2A>G
ENST00000635986.2:c.*553-2A>G ENSP00000490653.2:n.*553-2A>G
ENST00000636774.1:c.*2087-2A>G ENSP00000489799.1:n.*2087-2A>G
ENST00000637042.1:n.72-67A>G
ENST00000637238.1:c.2391-2A>G ENSP00000490756.1:n.2391-2A>G
ENST00000637264.1:c.2555-62A>G
ENST00000666746.1:c.3060-2A>G
ENST00000672071.1:n.4683A>G
ENST00000672695.1:n.1262-2A>G
ENST00000672923.2:n.3483-2A>G
ENST00000268124.9:c.3483-2A>G ENSP00000268124.5:n.3483-2A>G
ENST00000442287.6:c.3483-2A>G ENSP00000399851.2:n.3483-2A>G
ENST00000526671.1:n.291A>G
ENST00000530292.2:c.666-2A>G ENSP00000432885.1:n.666-2A>G
ENST00000631044.2:c.*2907-2A>G ENSP00000486730.1:n.*2907-2A>G
NM_001126131.1:c.3483-2A>G NP_001119603.1:n.3483-2A>G
NM_002693.2:c.3483-2A>G NP_002684.1:n.3483-2A>G
NM_001126131.2:c.3483-2A>G NP_001119603.1:n.3483-2A>G
NM_002693.3:c.3483-2A>G MANE Select NP_002684.1:n.3483-2A>G
Search 100 bp 5'
Search 100 bp 3'