Canonical Allele Identifier: CA274539702

Gene: POLG

Linked Data

• ClinVar Variation Id: 2887998
• ClinVar RCV Id: RCV003627132
• dbSNP Id: rs373925878
• gnomAD v2: 15-89860782-A-G
• gnomAD v3: 15-89317551-A-G
• gnomAD v4: 15-89317551-A-G
• MyVariant Identifiers: chr15:g.89860782A>G (hg19) ; chr15:g.89317551A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317551A>G , CM000677.2:g.89317551A>G	GRCh38
NC_000015.9:g.89860782A>G , CM000677.1:g.89860782A>G	GRCh37
NC_000015.8:g.87661786A>G	NCBI36
NG_008218.1:g.22245T>C
NG_011736.1:g.78589A>G , LRG_500:g.78589A>G
NG_008218.2:g.22245T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-15T>C	ENSP00000516154.1:n.3483-15T>C
ENST00000268124.11:c.3483-15T>C MANE Select	ENSP00000268124.5:n.3483-15T>C
ENST00000530292.3:c.3183-15T>C	ENSP00000432885.2:n.3183-15T>C
ENST00000635986.2:c.*553-15T>C	ENSP00000490653.2:n.*553-15T>C
ENST00000636774.1:c.*2087-15T>C	ENSP00000489799.1:n.*2087-15T>C
ENST00000637042.1:n.72-80T>C
ENST00000637238.1:c.2391-15T>C	ENSP00000490756.1:n.2391-15T>C
ENST00000637264.1:c.2555-75T>C
ENST00000666746.1:c.3060-15T>C
ENST00000672071.1:n.4670T>C
ENST00000672695.1:n.1262-15T>C
ENST00000672923.2:n.3483-15T>C
ENST00000268124.9:c.3483-15T>C	ENSP00000268124.5:n.3483-15T>C
ENST00000442287.6:c.3483-15T>C	ENSP00000399851.2:n.3483-15T>C
ENST00000526671.1:n.278T>C
ENST00000530292.2:c.666-15T>C	ENSP00000432885.1:n.666-15T>C
ENST00000631044.2:c.*2907-15T>C	ENSP00000486730.1:n.*2907-15T>C
NM_001126131.1:c.3483-15T>C	NP_001119603.1:n.3483-15T>C
NM_002693.2:c.3483-15T>C	NP_002684.1:n.3483-15T>C
NM_001126131.2:c.3483-15T>C	NP_001119603.1:n.3483-15T>C
NM_002693.3:c.3483-15T>C MANE Select	NP_002684.1:n.3483-15T>C