Canonical Allele Identifier: CA393750183
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318730T>C , CM000677.2:g.89318730T>C GRCh38
NC_000015.9:g.89861961T>C , CM000677.1:g.89861961T>C GRCh37
NC_000015.8:g.87662965T>C NCBI36
NG_008218.1:g.21066A>G
NG_011736.1:g.79768T>C , LRG_500:g.79768T>C
NG_008218.2:g.21066A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3293A>G ENSP00000516154.1:p.Asn1098Ser
ENST00000268124.11:c.3293A>G MANE Select ENSP00000268124.5:p.Asn1098Ser
ENST00000530292.3:c.2894A>G ENSP00000432885.2:p.Asn965Ser
ENST00000635986.2:c.*363A>G ENSP00000490653.2:n.*363A>G
ENST00000636774.1:c.*1860A>G ENSP00000489799.1:n.*1860A>G
ENST00000637238.1:c.2102A>G ENSP00000490756.1:n.2102A>G
ENST00000637264.1:c.2365A>G
ENST00000666746.1:c.2870A>G
ENST00000672071.1:n.3491A>G
ENST00000672695.1:n.470A>G
ENST00000672923.2:n.3293A>G
ENST00000268124.9:c.3293A>G ENSP00000268124.5:p.Asn1098Ser
ENST00000442287.6:c.3293A>G ENSP00000399851.2:p.Asn1098Ser
ENST00000530292.2:c.377A>G ENSP00000432885.1:p.Asn126Ser
ENST00000631044.2:c.*2717A>G ENSP00000486730.1:n.*2717A>G
NM_001126131.1:c.3293A>G NP_001119603.1:p.Asn1098Ser
NM_002693.2:c.3293A>G NP_002684.1:p.Asn1098Ser
NM_001126131.2:c.3293A>G NP_001119603.1:p.Asn1098Ser
NM_002693.3:c.3293A>G MANE Select NP_002684.1:p.Asn1098Ser