Canonical Allele Identifier: CA393747301

Gene: POLG

Linked Data

• dbSNP Id: rs772737979
• gnomAD v3: 15-89317405-C-T
• gnomAD v4: 15-89317405-C-T
• MyVariant Identifiers: chr15:g.89860636C>T (hg19) ; chr15:g.89317405C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317405C>T , CM000677.2:g.89317405C>T	GRCh38
NC_000015.9:g.89860636C>T , CM000677.1:g.89860636C>T	GRCh37
NC_000015.8:g.87661640C>T	NCBI36
NG_008218.1:g.22391G>A
NG_011736.1:g.78443C>T , LRG_500:g.78443C>T
NG_008218.2:g.22391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3614G>A	ENSP00000516154.1:p.Gly1205Glu
ENST00000268124.11:c.3614G>A MANE Select	ENSP00000268124.5:p.Gly1205Glu
ENST00000530292.3:c.3314G>A	ENSP00000432885.2:n.3314G>A
ENST00000635986.2:c.*684G>A	ENSP00000490653.2:n.*684G>A
ENST00000636774.1:c.*2218G>A	ENSP00000489799.1:n.*2218G>A
ENST00000637238.1:c.2522G>A	ENSP00000490756.1:n.2522G>A
ENST00000637264.1:c.2626G>A
ENST00000666746.1:c.3191G>A
ENST00000672071.1:n.4816G>A
ENST00000672695.1:n.1393G>A
ENST00000672923.2:n.3614G>A
ENST00000268124.9:c.3614G>A	ENSP00000268124.5:p.Gly1205Glu
ENST00000442287.6:c.3614G>A	ENSP00000399851.2:p.Gly1205Glu
ENST00000526671.1:n.424G>A
ENST00000530292.2:c.797G>A	ENSP00000432885.1:n.797G>A
ENST00000631044.2:c.*3038G>A	ENSP00000486730.1:n.*3038G>A
NM_001126131.1:c.3614G>A	NP_001119603.1:p.Gly1205Glu
NM_002693.2:c.3614G>A	NP_002684.1:p.Gly1205Glu
NM_001126131.2:c.3614G>A	NP_001119603.1:p.Gly1205Glu
NM_002693.3:c.3614G>A MANE Select	NP_002684.1:p.Gly1205Glu