Canonical Allele Identifier: CA274566405
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Linked Data

ClinVar Variation Id: 1936427
ClinVar RCV Id: RCV002658015
dbSNP Id: rs1022612492

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333588G>A , CM000677.2:g.89333588G>A GRCh38
NC_000015.9:g.89876819G>A , CM000677.1:g.89876819G>A GRCh37
NC_000015.8:g.87677823G>A NCBI36
NG_008218.1:g.6208C>T
NG_008218.2:g.6208C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.167C>T (POLG) ENSP00000516154.1:p.Pro56Leu
ENST00000706918.1:c.222C>T (POLGARF) ENSP00000516626.1:p.Ala74=
ENST00000268124.11:c.167C>T (POLG) MANE Select ENSP00000268124.5:p.Pro56Leu
ENST00000635986.2:c.167C>T (POLG) ENSP00000490653.2:p.Pro56Leu
ENST00000636774.1:c.167C>T (POLG) ENSP00000489799.1:p.Pro56Leu
ENST00000650303.2:c.222C>T (POLG) ENSP00000497242.2:p.Ala74=
ENST00000672071.1:n.365C>T (POLG)
ENST00000268124.9:c.167C>T (POLG) ENSP00000268124.5:p.Pro56Leu
ENST00000442287.6:c.167C>T (POLG) ENSP00000399851.2:p.Pro56Leu
ENST00000631044.2:c.167C>T (POLG) ENSP00000486730.1:p.Pro56Leu
NM_001126131.1:c.167C>T (POLG) NP_001119603.1:p.Pro56Leu
NM_002693.2:c.167C>T (POLG) NP_002684.1:p.Pro56Leu
NM_001126131.2:c.167C>T (POLG) NP_001119603.1:p.Pro56Leu
NM_002693.3:c.167C>T (POLG) MANE Select NP_002684.1:p.Pro56Leu