Canonical Allele Identifier: CA2194539620
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317543G= , CM000677.2:g.89317543G= GRCh38
NC_000015.9:g.89860774G= , CM000677.1:g.89860774G= GRCh37
NC_000015.8:g.87661778G= NCBI36
NG_008218.1:g.22253C=
NG_011736.1:g.78581G= , LRG_500:g.78581G=
NG_008218.2:g.22253C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3483-7C= ENSP00000516154.1:n.3483-7C=
ENST00000268124.11:c.3483-7C= MANE Select ENSP00000268124.5:n.3483-7C=
ENST00000530292.3:c.3183-7C= ENSP00000432885.2:n.3183-7C=
ENST00000635986.2:c.*553-7C= ENSP00000490653.2:n.*553-7C=
ENST00000636774.1:c.*2087-7C= ENSP00000489799.1:n.*2087-7C=
ENST00000637042.1:n.72-72C=
ENST00000637238.1:c.2391-7C= ENSP00000490756.1:n.2391-7C=
ENST00000637264.1:c.2555-67C=
ENST00000666746.1:c.3060-7C=
ENST00000672071.1:n.4678C=
ENST00000672695.1:n.1262-7C=
ENST00000672923.2:n.3483-7C=
ENST00000268124.9:c.3483-7C= ENSP00000268124.5:n.3483-7C=
ENST00000442287.6:c.3483-7C= ENSP00000399851.2:n.3483-7C=
ENST00000526671.1:n.286C=
ENST00000530292.2:c.666-7C= ENSP00000432885.1:n.666-7C=
ENST00000631044.2:c.*2907-7C= ENSP00000486730.1:n.*2907-7C=
NM_001126131.1:c.3483-7C= NP_001119603.1:n.3483-7C=
NM_002693.2:c.3483-7C= NP_002684.1:n.3483-7C=
NM_001126131.2:c.3483-7C= NP_001119603.1:n.3483-7C=
NM_002693.3:c.3483-7C= MANE Select NP_002684.1:n.3483-7C=