Canonical Allele Identifier: CA2581234652

Gene: POLG

Linked Data

• ClinVar Variation Id: 2745285
• ClinVar RCV Id: RCV003514820

Genomic Alleles

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

Transcript Alleles

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