Canonical Allele Identifier: CA7724833
Gene: POLG HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327080C>T , CM000677.2:g.89327080C>T GRCh38
NC_000015.9:g.89870311C>T , CM000677.1:g.89870311C>T GRCh37
NC_000015.8:g.87671315C>T NCBI36
NG_008218.1:g.12716G>A
NG_008218.2:g.12716G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1434-17G>A ENSP00000516154.1:n.1434-17G>A
ENST00000268124.11:c.1434-17G>A MANE Select ENSP00000268124.5:n.1434-17G>A
ENST00000530292.3:c.1035-17G>A ENSP00000432885.2:n.1035-17G>A
ENST00000635986.2:c.1434-17G>A ENSP00000490653.2:n.1434-17G>A
ENST00000636774.1:c.1434-1G>A ENSP00000489799.1:n.1434-1G>A
ENST00000637238.1:c.171-17G>A ENSP00000490756.1:n.171-17G>A
ENST00000637264.1:c.506-17G>A
ENST00000666746.1:c.1011-17G>A
ENST00000672071.1:n.1632-17G>A
ENST00000672923.2:n.1537-17G>A
ENST00000268124.9:c.1434-17G>A ENSP00000268124.5:n.1434-17G>A
ENST00000442287.6:c.1434-17G>A ENSP00000399851.2:n.1434-17G>A
ENST00000532363.2:n.378G>A
ENST00000631044.2:c.*817-17G>A ENSP00000486730.1:n.*817-17G>A
NM_001126131.1:c.1434-17G>A NP_001119603.1:n.1434-17G>A
NM_002693.2:c.1434-17G>A NP_002684.1:n.1434-17G>A
NM_001126131.2:c.1434-17G>A NP_001119603.1:n.1434-17G>A
NM_002693.3:c.1434-17G>A MANE Select NP_002684.1:n.1434-17G>A