Canonical Allele Identifier: CA2597948781

Gene: POLG

Linked Data

• dbSNP Id: rs2152057252
• gnomAD v3: 15-89317682-G-C
• gnomAD v4: 15-89317682-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317682G>C , CM000677.2:g.89317682G>C	GRCh38
NC_000015.9:g.89860913G>C , CM000677.1:g.89860913G>C	GRCh37
NC_000015.8:g.87661917G>C	NCBI36
NG_008218.1:g.22114C>G
NG_011736.1:g.78720G>C , LRG_500:g.78720G>C
NG_008218.2:g.22114C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-146C>G	ENSP00000516154.1:n.3483-146C>G
ENST00000268124.11:c.3483-146C>G MANE Select	ENSP00000268124.5:n.3483-146C>G
ENST00000530292.3:c.3183-146C>G	ENSP00000432885.2:n.3183-146C>G
ENST00000635986.2:c.*553-146C>G	ENSP00000490653.2:n.*553-146C>G
ENST00000636774.1:c.*2087-146C>G	ENSP00000489799.1:n.*2087-146C>G
ENST00000637042.1:n.72-211C>G
ENST00000637238.1:c.2391-146C>G	ENSP00000490756.1:n.2391-146C>G
ENST00000637264.1:c.2555-206C>G
ENST00000666746.1:c.3060-146C>G
ENST00000672071.1:n.4539C>G
ENST00000672695.1:n.1262-146C>G
ENST00000672923.2:n.3483-146C>G
ENST00000268124.9:c.3483-146C>G	ENSP00000268124.5:n.3483-146C>G
ENST00000442287.6:c.3483-146C>G	ENSP00000399851.2:n.3483-146C>G
ENST00000526671.1:n.147C>G
ENST00000530292.2:c.666-146C>G	ENSP00000432885.1:n.666-146C>G
ENST00000631044.2:c.*2907-146C>G	ENSP00000486730.1:n.*2907-146C>G
NM_001126131.1:c.3483-146C>G	NP_001119603.1:n.3483-146C>G
NM_002693.2:c.3483-146C>G	NP_002684.1:n.3483-146C>G
NM_001126131.2:c.3483-146C>G	NP_001119603.1:n.3483-146C>G
NM_002693.3:c.3483-146C>G MANE Select	NP_002684.1:n.3483-146C>G