Canonical Allele Identifier: CA393747904

Gene: POLG

Linked Data

• dbSNP Id: rs1288906554
• gnomAD v3: 15-89317498-G-T
• gnomAD v4: 15-89317498-G-T
• MyVariant Identifiers: chr15:g.89860729G>T (hg19) ; chr15:g.89317498G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317498G>T , CM000677.2:g.89317498G>T	GRCh38
NC_000015.9:g.89860729G>T , CM000677.1:g.89860729G>T	GRCh37
NC_000015.8:g.87661733G>T	NCBI36
NG_008218.1:g.22298C>A
NG_011736.1:g.78536G>T , LRG_500:g.78536G>T
NG_008218.2:g.22298C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3521C>A	ENSP00000516154.1:p.Pro1174His
ENST00000268124.11:c.3521C>A MANE Select	ENSP00000268124.5:p.Pro1174His
ENST00000530292.3:c.3221C>A	ENSP00000432885.2:n.3221C>A
ENST00000635986.2:c.*591C>A	ENSP00000490653.2:n.*591C>A
ENST00000636774.1:c.*2125C>A	ENSP00000489799.1:n.*2125C>A
ENST00000637042.1:n.72-27C>A
ENST00000637238.1:c.2429C>A	ENSP00000490756.1:n.2429C>A
ENST00000637264.1:c.2555-22C>A
ENST00000666746.1:c.3098C>A
ENST00000672071.1:n.4723C>A
ENST00000672695.1:n.1300C>A
ENST00000672923.2:n.3521C>A
ENST00000268124.9:c.3521C>A	ENSP00000268124.5:p.Pro1174His
ENST00000442287.6:c.3521C>A	ENSP00000399851.2:p.Pro1174His
ENST00000526671.1:n.331C>A
ENST00000530292.2:c.704C>A	ENSP00000432885.1:n.704C>A
ENST00000631044.2:c.*2945C>A	ENSP00000486730.1:n.*2945C>A
NM_001126131.1:c.3521C>A	NP_001119603.1:p.Pro1174His
NM_002693.2:c.3521C>A	NP_002684.1:p.Pro1174His
NM_001126131.2:c.3521C>A	NP_001119603.1:p.Pro1174His
NM_002693.3:c.3521C>A MANE Select	NP_002684.1:p.Pro1174His