Canonical Allele Identifier: CA393765861
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89329062A>C , CM000677.2:g.89329062A>C GRCh38
NC_000015.9:g.89872293A>C , CM000677.1:g.89872293A>C GRCh37
NC_000015.8:g.87673297A>C NCBI36
NG_008218.1:g.10734T>G
NG_008218.2:g.10734T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.904T>G ENSP00000516154.1:p.Ser302Ala
ENST00000268124.11:c.904T>G MANE Select ENSP00000268124.5:p.Ser302Ala
ENST00000530292.3:c.505T>G ENSP00000432885.2:p.Ser169Ala
ENST00000635986.2:c.904T>G ENSP00000490653.2:p.Ser302Ala
ENST00000636774.1:c.904T>G ENSP00000489799.1:p.Ser302Ala
ENST00000666746.1:c.561T>G
ENST00000672071.1:n.1102T>G
ENST00000268124.9:c.904T>G ENSP00000268124.5:p.Ser302Ala
ENST00000442287.6:c.904T>G ENSP00000399851.2:p.Ser302Ala
ENST00000631044.2:c.*287T>G ENSP00000486730.1:n.*287T>G
NM_001126131.1:c.904T>G NP_001119603.1:p.Ser302Ala
NM_002693.2:c.904T>G NP_002684.1:p.Ser302Ala
NM_001126131.2:c.904T>G NP_001119603.1:p.Ser302Ala
NM_002693.3:c.904T>G MANE Select NP_002684.1:p.Ser302Ala