Canonical Allele Identifier: CA7725127
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Linked Data

ClinVar Variation Id: 945985
ClinVar RCV Id: RCV001216751
dbSNP Id: rs778608349

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333403C>T , CM000677.2:g.89333403C>T GRCh38
NC_000015.9:g.89876634C>T , CM000677.1:g.89876634C>T GRCh37
NC_000015.8:g.87677638C>T NCBI36
NG_008218.1:g.6393G>A
NG_008218.2:g.6393G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.352G>A (POLG) ENSP00000516154.1:p.Val118Met
ENST00000706918.1:c.407G>A (POLGARF) ENSP00000516626.1:p.Arg136His
ENST00000268124.11:c.352G>A (POLG) MANE Select ENSP00000268124.5:p.Val118Met
ENST00000635986.2:c.352G>A (POLG) ENSP00000490653.2:p.Val118Met
ENST00000636774.1:c.352G>A (POLG) ENSP00000489799.1:p.Val118Met
ENST00000650303.2:c.407G>A (POLG) ENSP00000497242.2:p.Arg136His
ENST00000666746.1:c.9G>A (POLG)
ENST00000672071.1:n.550G>A (POLG)
ENST00000268124.9:c.352G>A (POLG) ENSP00000268124.5:p.Val118Met
ENST00000442287.6:c.352G>A (POLG) ENSP00000399851.2:p.Val118Met
ENST00000631044.2:c.352G>A (POLG) ENSP00000486730.1:p.Val118Met
NM_001126131.1:c.352G>A (POLG) NP_001119603.1:p.Val118Met
NM_002693.2:c.352G>A (POLG) NP_002684.1:p.Val118Met
NM_001126131.2:c.352G>A (POLG) NP_001119603.1:p.Val118Met
NM_002693.3:c.352G>A (POLG) MANE Select NP_002684.1:p.Val118Met