Canonical Allele Identifier: CA393747299
Gene: POLG HGNC NCBI

Linked Data

dbSNP Id: rs772737979

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3614G>T ENSP00000516154.1:p.Gly1205Val
ENST00000268124.11:c.3614G>T MANE Select ENSP00000268124.5:p.Gly1205Val
ENST00000530292.3:c.3314G>T ENSP00000432885.2:n.3314G>T
ENST00000635986.2:c.*684G>T ENSP00000490653.2:n.*684G>T
ENST00000636774.1:c.*2218G>T ENSP00000489799.1:n.*2218G>T
ENST00000637238.1:c.2522G>T ENSP00000490756.1:n.2522G>T
ENST00000637264.1:c.2626G>T
ENST00000666746.1:c.3191G>T
ENST00000672071.1:n.4816G>T
ENST00000672695.1:n.1393G>T
ENST00000672923.2:n.3614G>T
ENST00000268124.9:c.3614G>T ENSP00000268124.5:p.Gly1205Val
ENST00000442287.6:c.3614G>T ENSP00000399851.2:p.Gly1205Val
ENST00000526671.1:n.424G>T
ENST00000530292.2:c.797G>T ENSP00000432885.1:n.797G>T
ENST00000631044.2:c.*3038G>T ENSP00000486730.1:n.*3038G>T
NM_001126131.1:c.3614G>T NP_001119603.1:p.Gly1205Val
NM_002693.2:c.3614G>T NP_002684.1:p.Gly1205Val
NM_001126131.2:c.3614G>T NP_001119603.1:p.Gly1205Val
NM_002693.3:c.3614G>T MANE Select NP_002684.1:p.Gly1205Val