Canonical Allele Identifier: CA492290142
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89876818A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333587A>G , CM000677.2:g.89333587A>G GRCh38
NC_000015.9:g.89876818A>G , CM000677.1:g.89876818A>G GRCh37
NC_000015.8:g.87677822A>G NCBI36
NG_008218.1:g.6209T>C
NG_008218.2:g.6209T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.168T>C (POLG) ENSP00000516154.1:p.Pro56=
ENST00000706918.1:c.223T>C (POLGARF) ENSP00000516626.1:p.Ser75Pro
ENST00000268124.11:c.168T>C (POLG) MANE Select ENSP00000268124.5:p.Pro56=
ENST00000635986.2:c.168T>C (POLG) ENSP00000490653.2:p.Pro56=
ENST00000636774.1:c.168T>C (POLG) ENSP00000489799.1:p.Pro56=
ENST00000650303.2:c.223T>C (POLG) ENSP00000497242.2:p.Ser75Pro
ENST00000672071.1:n.366T>C (POLG)
ENST00000268124.9:c.168T>C (POLG) ENSP00000268124.5:p.Pro56=
ENST00000442287.6:c.168T>C (POLG) ENSP00000399851.2:p.Pro56=
ENST00000631044.2:c.168T>C (POLG) ENSP00000486730.1:p.Pro56=
NM_001126131.1:c.168T>C (POLG) NP_001119603.1:p.Pro56=
NM_002693.2:c.168T>C (POLG) NP_002684.1:p.Pro56=
NM_001126131.2:c.168T>C (POLG) NP_001119603.1:p.Pro56=
NM_002693.3:c.168T>C (POLG) MANE Select NP_002684.1:p.Pro56=