Canonical Allele Identifier: CA2630255295

Gene: POLG

Linked Data

• gnomAD v4: 15-89317646-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317646C>A , CM000677.2:g.89317646C>A	GRCh38
NC_000015.9:g.89860877C>A , CM000677.1:g.89860877C>A	GRCh37
NC_000015.8:g.87661881C>A	NCBI36
NG_008218.1:g.22150G>T
NG_011736.1:g.78684C>A , LRG_500:g.78684C>A
NG_008218.2:g.22150G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-110G>T	ENSP00000516154.1:n.3483-110G>T
ENST00000268124.11:c.3483-110G>T MANE Select	ENSP00000268124.5:n.3483-110G>T
ENST00000530292.3:c.3183-110G>T	ENSP00000432885.2:n.3183-110G>T
ENST00000635986.2:c.*553-110G>T	ENSP00000490653.2:n.*553-110G>T
ENST00000636774.1:c.*2087-110G>T	ENSP00000489799.1:n.*2087-110G>T
ENST00000637042.1:n.72-175G>T
ENST00000637238.1:c.2391-110G>T	ENSP00000490756.1:n.2391-110G>T
ENST00000637264.1:c.2555-170G>T
ENST00000666746.1:c.3060-110G>T
ENST00000672071.1:n.4575G>T
ENST00000672695.1:n.1262-110G>T
ENST00000672923.2:n.3483-110G>T
ENST00000268124.9:c.3483-110G>T	ENSP00000268124.5:n.3483-110G>T
ENST00000442287.6:c.3483-110G>T	ENSP00000399851.2:n.3483-110G>T
ENST00000526671.1:n.183G>T
ENST00000530292.2:c.666-110G>T	ENSP00000432885.1:n.666-110G>T
ENST00000631044.2:c.*2907-110G>T	ENSP00000486730.1:n.*2907-110G>T
NM_001126131.1:c.3483-110G>T	NP_001119603.1:n.3483-110G>T
NM_002693.2:c.3483-110G>T	NP_002684.1:n.3483-110G>T
NM_001126131.2:c.3483-110G>T	NP_001119603.1:n.3483-110G>T
NM_002693.3:c.3483-110G>T MANE Select	NP_002684.1:n.3483-110G>T