Canonical Allele Identifier: CA2194539837

Gene: POLG

Linked Data

• dbSNP Id: rs2055318379
• gnomAD v4: 15-89317652-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317652A>G , CM000677.2:g.89317652A>G	GRCh38
NC_000015.9:g.89860883A>G , CM000677.1:g.89860883A>G	GRCh37
NC_000015.8:g.87661887A>G	NCBI36
NG_008218.1:g.22144T>C
NG_011736.1:g.78690A>G , LRG_500:g.78690A>G
NG_008218.2:g.22144T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-116T>C	ENSP00000516154.1:n.3483-116T>C
ENST00000268124.11:c.3483-116T>C MANE Select	ENSP00000268124.5:n.3483-116T>C
ENST00000530292.3:c.3183-116T>C	ENSP00000432885.2:n.3183-116T>C
ENST00000635986.2:c.*553-116T>C	ENSP00000490653.2:n.*553-116T>C
ENST00000636774.1:c.*2087-116T>C	ENSP00000489799.1:n.*2087-116T>C
ENST00000637042.1:n.72-181T>C
ENST00000637238.1:c.2391-116T>C	ENSP00000490756.1:n.2391-116T>C
ENST00000637264.1:c.2555-176T>C
ENST00000666746.1:c.3060-116T>C
ENST00000672071.1:n.4569T>C
ENST00000672695.1:n.1262-116T>C
ENST00000672923.2:n.3483-116T>C
ENST00000268124.9:c.3483-116T>C	ENSP00000268124.5:n.3483-116T>C
ENST00000442287.6:c.3483-116T>C	ENSP00000399851.2:n.3483-116T>C
ENST00000526671.1:n.177T>C
ENST00000530292.2:c.666-116T>C	ENSP00000432885.1:n.666-116T>C
ENST00000631044.2:c.*2907-116T>C	ENSP00000486730.1:n.*2907-116T>C
NM_001126131.1:c.3483-116T>C	NP_001119603.1:n.3483-116T>C
NM_002693.2:c.3483-116T>C	NP_002684.1:n.3483-116T>C
NM_001126131.2:c.3483-116T>C	NP_001119603.1:n.3483-116T>C
NM_002693.3:c.3483-116T>C MANE Select	NP_002684.1:n.3483-116T>C