Canonical Allele Identifier: CA123148
Gene: POLG HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 13506
ClinVar RCV Id: RCV000014458
dbSNP Id: rs121918050

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321743T>C , CM000677.2:g.89321743T>C GRCh38
NC_000015.8:g.87665978T>C NCBI36
NC_000015.9:g.89864974T>C , CM000677.1:g.89864974T>C GRCh37
NG_008218.1:g.18053A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000268124.9:c.2591A>G ENSP00000268124.5:p.Asn864Ser
ENST00000442287.6:c.2591A>G ENSP00000399851.2:p.Asn864Ser
ENST00000528881.2:n.196-483A>G
ENST00000530715.5:n.186-874A>G ENSP00000431395.1:p.=
ENST00000631044.2:c.*2015A>G ENSP00000486730.1:p.=
NM_001126131.1:c.2591A>G NP_001119603.1:p.Asn864Ser
NM_002693.2:c.2591A>G NP_002684.1:p.Asn864Ser