Canonical Allele Identifier: CA7724119
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 619494
ClinVar RCV Id: RCV001712745 RCV001759446
dbSNP Id: rs2307436
ExAC: 15:89860808 T / G
gnomAD v2: 15-89860808-T-G
gnomAD v3: 15-89317577-T-G
gnomAD v4: 15-89317577-T-G
MyVariant Identifiers: chr15:g.89860808T>G (hg19) chr15:g.89317577T>G (hg38)
ERepo: CA7724119/MONDO:0044970/014
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317577T>G , CM000677.2:g.89317577T>G GRCh38
NC_000015.9:g.89860808T>G , CM000677.1:g.89860808T>G GRCh37
NC_000015.8:g.87661812T>G NCBI36
NG_008218.1:g.22219A>C
NG_011736.1:g.78615T>G , LRG_500:g.78615T>G
NG_008218.2:g.22219A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.3483-41A>C ENSP00000516154.1:n.3483-41A>C
ENST00000268124.11:c.3483-41A>C MANE Select ENSP00000268124.5:n.3483-41A>C
ENST00000530292.3:c.3183-41A>C ENSP00000432885.2:n.3183-41A>C
ENST00000635986.2:c.*553-41A>C ENSP00000490653.2:n.*553-41A>C
ENST00000636774.1:c.*2087-41A>C ENSP00000489799.1:n.*2087-41A>C
ENST00000637042.1:n.72-106A>C
ENST00000637238.1:c.2391-41A>C ENSP00000490756.1:n.2391-41A>C
ENST00000637264.1:c.2555-101A>C
ENST00000666746.1:c.3060-41A>C
ENST00000672071.1:n.4644A>C
ENST00000672695.1:n.1262-41A>C
ENST00000672923.2:n.3483-41A>C
ENST00000268124.9:c.3483-41A>C ENSP00000268124.5:n.3483-41A>C
ENST00000442287.6:c.3483-41A>C ENSP00000399851.2:n.3483-41A>C
ENST00000526671.1:n.252A>C
ENST00000530292.2:c.666-41A>C ENSP00000432885.1:n.666-41A>C
ENST00000631044.2:c.*2907-41A>C ENSP00000486730.1:n.*2907-41A>C
NM_001126131.1:c.3483-41A>C NP_001119603.1:n.3483-41A>C
NM_002693.2:c.3483-41A>C NP_002684.1:n.3483-41A>C
NM_001126131.2:c.3483-41A>C NP_001119603.1:n.3483-41A>C
NM_002693.3:c.3483-41A>C MANE Select NP_002684.1:n.3483-41A>C
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