Canonical Allele Identifier: CA393766919
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89330160C>G , CM000677.2:g.89330160C>G GRCh38
NC_000015.9:g.89873391C>G , CM000677.1:g.89873391C>G GRCh37
NC_000015.8:g.87674395C>G NCBI36
NG_008218.1:g.9636G>C
NG_008218.2:g.9636G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.776G>C ENSP00000516154.1:p.Arg259Thr
ENST00000268124.11:c.776G>C MANE Select ENSP00000268124.5:p.Arg259Thr
ENST00000530292.3:c.377G>C ENSP00000432885.2:p.Arg126Thr
ENST00000635986.2:c.776G>C ENSP00000490653.2:p.Arg259Thr
ENST00000636774.1:c.776G>C ENSP00000489799.1:p.Arg259Thr
ENST00000666746.1:c.433G>C
ENST00000672071.1:n.974G>C
ENST00000268124.9:c.776G>C ENSP00000268124.5:p.Arg259Thr
ENST00000442287.6:c.776G>C ENSP00000399851.2:p.Arg259Thr
ENST00000631044.2:c.*159G>C ENSP00000486730.1:n.*159G>C
NM_001126131.1:c.776G>C NP_001119603.1:p.Arg259Thr
NM_002693.2:c.776G>C NP_002684.1:p.Arg259Thr
NM_001126131.2:c.776G>C NP_001119603.1:p.Arg259Thr
NM_002693.3:c.776G>C MANE Select NP_002684.1:p.Arg259Thr