Canonical Allele Identifier: CA292852

Gene: POLG

Linked Data

• ClinVar Variation Id: 138763
• ClinVar RCV Id: RCV000127543 ; RCV000758550 ; RCV001789187 ; RCV001789188 ; RCV001789189 ; RCV001789190 ; RCV001711294
• dbSNP Id: rs2307438
• ExAC: 15:89860786 A / C
• gnomAD v2: 15-89860786-A-C
• gnomAD v3: 15-89317555-A-C
• gnomAD v4: 15-89317555-A-C
• MyVariant Identifiers: chr15:g.89860786A>C (hg19) ; chr15:g.89317555A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317555A>C , CM000677.2:g.89317555A>C	GRCh38
NC_000015.9:g.89860786A>C , CM000677.1:g.89860786A>C	GRCh37
NC_000015.8:g.87661790A>C	NCBI36
NG_008218.1:g.22241T>G
NG_011736.1:g.78593A>C , LRG_500:g.78593A>C
NG_008218.2:g.22241T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-19T>G	ENSP00000516154.1:n.3483-19T>G
ENST00000268124.11:c.3483-19T>G MANE Select	ENSP00000268124.5:n.3483-19T>G
ENST00000530292.3:c.3183-19T>G	ENSP00000432885.2:n.3183-19T>G
ENST00000635986.2:c.*553-19T>G	ENSP00000490653.2:n.*553-19T>G
ENST00000636774.1:c.*2087-19T>G	ENSP00000489799.1:n.*2087-19T>G
ENST00000637042.1:n.72-84T>G
ENST00000637238.1:c.2391-19T>G	ENSP00000490756.1:n.2391-19T>G
ENST00000637264.1:c.2555-79T>G
ENST00000666746.1:c.3060-19T>G
ENST00000672071.1:n.4666T>G
ENST00000672695.1:n.1262-19T>G
ENST00000672923.2:n.3483-19T>G
ENST00000268124.9:c.3483-19T>G	ENSP00000268124.5:n.3483-19T>G
ENST00000442287.6:c.3483-19T>G	ENSP00000399851.2:n.3483-19T>G
ENST00000526671.1:n.274T>G
ENST00000530292.2:c.666-19T>G	ENSP00000432885.1:n.666-19T>G
ENST00000631044.2:c.*2907-19T>G	ENSP00000486730.1:n.*2907-19T>G
NM_001126131.1:c.3483-19T>G	NP_001119603.1:n.3483-19T>G
NM_002693.2:c.3483-19T>G	NP_002684.1:n.3483-19T>G
NM_001126131.2:c.3483-19T>G	NP_001119603.1:n.3483-19T>G
NM_002693.3:c.3483-19T>G MANE Select	NP_002684.1:n.3483-19T>G