Canonical Allele Identifier: CA972592679

Gene: POLG

Linked Data

• dbSNP Id: rs2055319227
• gnomAD v3: 15-89317685-G-A
• gnomAD v4: 15-89317685-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317685G>A , CM000677.2:g.89317685G>A	GRCh38
NC_000015.9:g.89860916G>A , CM000677.1:g.89860916G>A	GRCh37
NC_000015.8:g.87661920G>A	NCBI36
NG_008218.1:g.22111C>T
NG_011736.1:g.78723G>A , LRG_500:g.78723G>A
NG_008218.2:g.22111C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-149C>T	ENSP00000516154.1:n.3483-149C>T
ENST00000268124.11:c.3483-149C>T MANE Select	ENSP00000268124.5:n.3483-149C>T
ENST00000530292.3:c.3183-149C>T	ENSP00000432885.2:n.3183-149C>T
ENST00000635986.2:c.*553-149C>T	ENSP00000490653.2:n.*553-149C>T
ENST00000636774.1:c.*2087-149C>T	ENSP00000489799.1:n.*2087-149C>T
ENST00000637042.1:n.72-214C>T
ENST00000637238.1:c.2391-149C>T	ENSP00000490756.1:n.2391-149C>T
ENST00000637264.1:c.2555-209C>T
ENST00000666746.1:c.3060-149C>T
ENST00000672071.1:n.4536C>T
ENST00000672695.1:n.1262-149C>T
ENST00000672923.2:n.3483-149C>T
ENST00000268124.9:c.3483-149C>T	ENSP00000268124.5:n.3483-149C>T
ENST00000442287.6:c.3483-149C>T	ENSP00000399851.2:n.3483-149C>T
ENST00000526671.1:n.144C>T
ENST00000530292.2:c.666-149C>T	ENSP00000432885.1:n.666-149C>T
ENST00000631044.2:c.*2907-149C>T	ENSP00000486730.1:n.*2907-149C>T
NM_001126131.1:c.3483-149C>T	NP_001119603.1:n.3483-149C>T
NM_002693.2:c.3483-149C>T	NP_002684.1:n.3483-149C>T
NM_001126131.2:c.3483-149C>T	NP_001119603.1:n.3483-149C>T
NM_002693.3:c.3483-149C>T MANE Select	NP_002684.1:n.3483-149C>T