Canonical Allele Identifier: CA302812
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Linked Data

ClinVar Variation Id: 195182
dbSNP Id: rs765472726

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333723C>T , CM000677.2:g.89333723C>T GRCh38
NC_000015.9:g.89876954C>T , CM000677.1:g.89876954C>T GRCh37
NC_000015.8:g.87677958C>T NCBI36
NG_008218.1:g.6073G>A
NG_008218.2:g.6073G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.32G>A (POLG) ENSP00000516154.1:p.Gly11Asp
ENST00000706918.1:c.87G>A (POLGARF) ENSP00000516626.1:p.Arg29=
ENST00000268124.11:c.32G>A (POLG) MANE Select ENSP00000268124.5:p.Gly11Asp
ENST00000635986.2:c.32G>A (POLG) ENSP00000490653.2:p.Gly11Asp
ENST00000636774.1:c.32G>A (POLG) ENSP00000489799.1:p.Gly11Asp
ENST00000650303.2:c.87G>A (POLG) ENSP00000497242.2:p.Arg29=
ENST00000672071.1:n.230G>A (POLG)
ENST00000268124.9:c.32G>A (POLG) ENSP00000268124.5:p.Gly11Asp
ENST00000442287.6:c.32G>A (POLG) ENSP00000399851.2:p.Gly11Asp
ENST00000631044.2:c.32G>A (POLG) ENSP00000486730.1:p.Gly11Asp
NM_001126131.1:c.32G>A (POLG) NP_001119603.1:p.Gly11Asp
NM_002693.2:c.32G>A (POLG) NP_002684.1:p.Gly11Asp
NM_001126131.2:c.32G>A (POLG) NP_001119603.1:p.Gly11Asp
NM_002693.3:c.32G>A (POLG) MANE Select NP_002684.1:p.Gly11Asp