Canonical Allele Identifier: CA2194557776
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2036109
ClinVar RCV Id: RCV002894716
dbSNP Id: rs2055533288

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327149C>T , CM000677.2:g.89327149C>T GRCh38
NC_000015.9:g.89870380C>T , CM000677.1:g.89870380C>T GRCh37
NC_000015.8:g.87671384C>T NCBI36
NG_008218.1:g.12647G>A
NG_008218.2:g.12647G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1433+18G>A ENSP00000516154.1:n.1433+18G>A
ENST00000268124.11:c.1433+18G>A MANE Select ENSP00000268124.5:n.1433+18G>A
ENST00000530292.3:c.1034+18G>A ENSP00000432885.2:n.1034+18G>A
ENST00000635986.2:c.1433+18G>A ENSP00000490653.2:n.1433+18G>A
ENST00000636774.1:c.1433+18G>A ENSP00000489799.1:n.1433+18G>A
ENST00000637238.1:c.170+18G>A ENSP00000490756.1:n.170+18G>A
ENST00000637264.1:c.505+18G>A
ENST00000666746.1:c.1010+18G>A
ENST00000672071.1:n.1631+18G>A
ENST00000672923.2:n.1536+18G>A
ENST00000268124.9:c.1433+18G>A ENSP00000268124.5:n.1433+18G>A
ENST00000442287.6:c.1433+18G>A ENSP00000399851.2:n.1433+18G>A
ENST00000532363.2:n.309G>A
ENST00000631044.2:c.*816+18G>A ENSP00000486730.1:n.*816+18G>A
NM_001126131.1:c.1433+18G>A NP_001119603.1:n.1433+18G>A
NM_002693.2:c.1433+18G>A NP_002684.1:n.1433+18G>A
NM_001126131.2:c.1433+18G>A NP_001119603.1:n.1433+18G>A
NM_002693.3:c.1433+18G>A MANE Select NP_002684.1:n.1433+18G>A