Canonical Allele Identifier: CA16042970
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Linked Data

ClinVar Variation Id: 372622
dbSNP Id: rs1057517891

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333346G>A , CM000677.2:g.89333346G>A GRCh38
NC_000015.9:g.89876577G>A , CM000677.1:g.89876577G>A GRCh37
NC_000015.8:g.87677581G>A NCBI36
NG_008218.1:g.6450C>T
NG_008218.2:g.6450C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.409C>T (POLG) ENSP00000516154.1:p.Gln137Ter
ENST00000706918.1:c.464C>T (POLGARF) ENSP00000516626.1:p.Pro155Leu
ENST00000268124.11:c.409C>T (POLG) MANE Select ENSP00000268124.5:p.Gln137Ter
ENST00000530292.3:c.10C>T (POLG) ENSP00000432885.2:p.Gln4Ter
ENST00000635986.2:c.409C>T (POLG) ENSP00000490653.2:p.Gln137Ter
ENST00000636774.1:c.409C>T (POLG) ENSP00000489799.1:p.Gln137Ter
ENST00000650303.2:c.464C>T (POLG) ENSP00000497242.2:p.Pro155Leu
ENST00000666746.1:c.66C>T (POLG)
ENST00000672071.1:n.607C>T (POLG)
ENST00000268124.9:c.409C>T (POLG) ENSP00000268124.5:p.Gln137Ter
ENST00000442287.6:c.409C>T (POLG) ENSP00000399851.2:p.Gln137Ter
ENST00000631044.2:c.409C>T (POLG) ENSP00000486730.1:p.Gln137Ter
NM_001126131.1:c.409C>T (POLG) NP_001119603.1:p.Gln137Ter
NM_002693.2:c.409C>T (POLG) NP_002684.1:p.Gln137Ter
NM_001126131.2:c.409C>T (POLG) NP_001119603.1:p.Gln137Ter
NM_002693.3:c.409C>T (POLG) MANE Select NP_002684.1:p.Gln137Ter