Canonical Allele Identifier: CA716880118

Gene: POLG

Linked Data

• dbSNP Id: rs1231304894
• gnomAD v3: 15-89317623-G-A
• gnomAD v4: 15-89317623-G-A
• MyVariant Identifiers: chr15:g.89860854G>A (hg19) ; chr15:g.89317623G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317623G>A , CM000677.2:g.89317623G>A	GRCh38
NC_000015.9:g.89860854G>A , CM000677.1:g.89860854G>A	GRCh37
NC_000015.8:g.87661858G>A	NCBI36
NG_008218.1:g.22173C>T
NG_011736.1:g.78661G>A , LRG_500:g.78661G>A
NG_008218.2:g.22173C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3483-87C>T	ENSP00000516154.1:n.3483-87C>T
ENST00000268124.11:c.3483-87C>T MANE Select	ENSP00000268124.5:n.3483-87C>T
ENST00000530292.3:c.3183-87C>T	ENSP00000432885.2:n.3183-87C>T
ENST00000635986.2:c.*553-87C>T	ENSP00000490653.2:n.*553-87C>T
ENST00000636774.1:c.*2087-87C>T	ENSP00000489799.1:n.*2087-87C>T
ENST00000637042.1:n.72-152C>T
ENST00000637238.1:c.2391-87C>T	ENSP00000490756.1:n.2391-87C>T
ENST00000637264.1:c.2555-147C>T
ENST00000666746.1:c.3060-87C>T
ENST00000672071.1:n.4598C>T
ENST00000672695.1:n.1262-87C>T
ENST00000672923.2:n.3483-87C>T
ENST00000268124.9:c.3483-87C>T	ENSP00000268124.5:n.3483-87C>T
ENST00000442287.6:c.3483-87C>T	ENSP00000399851.2:n.3483-87C>T
ENST00000526671.1:n.206C>T
ENST00000530292.2:c.666-87C>T	ENSP00000432885.1:n.666-87C>T
ENST00000631044.2:c.*2907-87C>T	ENSP00000486730.1:n.*2907-87C>T
NM_001126131.1:c.3483-87C>T	NP_001119603.1:n.3483-87C>T
NM_002693.2:c.3483-87C>T	NP_002684.1:n.3483-87C>T
NM_001126131.2:c.3483-87C>T	NP_001119603.1:n.3483-87C>T
NM_002693.3:c.3483-87C>T MANE Select	NP_002684.1:n.3483-87C>T