Canonical Allele Identifier: CA2194539325
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317487C= , CM000677.2:g.89317487C= GRCh38
NC_000015.9:g.89860718C= , CM000677.1:g.89860718C= GRCh37
NC_000015.8:g.87661722C= NCBI36
NG_008218.1:g.22309G=
NG_011736.1:g.78525C= , LRG_500:g.78525C=
NG_008218.2:g.22309G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3532G= ENSP00000516154.1:p.Ala1178=
ENST00000268124.11:c.3532G= MANE Select ENSP00000268124.5:p.Ala1178=
ENST00000530292.3:c.3232G= ENSP00000432885.2:n.3232G=
ENST00000635986.2:c.*602G= ENSP00000490653.2:n.*602G=
ENST00000636774.1:c.*2136G= ENSP00000489799.1:n.*2136G=
ENST00000637042.1:n.72-16G=
ENST00000637238.1:c.2440G= ENSP00000490756.1:n.2440G=
ENST00000637264.1:c.2555-11G=
ENST00000666746.1:c.3109G=
ENST00000672071.1:n.4734G=
ENST00000672695.1:n.1311G=
ENST00000672923.2:n.3532G=
ENST00000268124.9:c.3532G= ENSP00000268124.5:p.Ala1178=
ENST00000442287.6:c.3532G= ENSP00000399851.2:p.Ala1178=
ENST00000526671.1:n.342G=
ENST00000530292.2:c.715G= ENSP00000432885.1:n.715G=
ENST00000631044.2:c.*2956G= ENSP00000486730.1:n.*2956G=
NM_001126131.1:c.3532G= NP_001119603.1:p.Ala1178=
NM_002693.2:c.3532G= NP_002684.1:p.Ala1178=
NM_001126131.2:c.3532G= NP_001119603.1:p.Ala1178=
NM_002693.3:c.3532G= MANE Select NP_002684.1:p.Ala1178=