Canonical Allele Identifier: CA393753359
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321013C>G , CM000677.2:g.89321013C>G GRCh38
NC_000015.9:g.89864244C>G , CM000677.1:g.89864244C>G GRCh37
NC_000015.8:g.87665248C>G NCBI36
NG_008218.1:g.18783G>C
NG_008218.2:g.18783G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2735-1G>C ENSP00000516154.1:n.2735-1G>C
ENST00000268124.11:c.2735-1G>C MANE Select ENSP00000268124.5:n.2735-1G>C
ENST00000530292.3:c.2336-1G>C ENSP00000432885.2:n.2336-1G>C
ENST00000635986.2:c.2735-1G>C ENSP00000490653.2:n.2735-1G>C
ENST00000636774.1:c.*1302-1G>C ENSP00000489799.1:n.*1302-1G>C
ENST00000637238.1:c.1543G>C ENSP00000490756.1:n.1543G>C
ENST00000637264.1:c.1807-1G>C
ENST00000666746.1:c.2312-1G>C
ENST00000670281.1:c.800+949G>C ENSP00000499709.1:n.800+949G>C
ENST00000672071.1:n.2933-1G>C
ENST00000672923.2:n.2677-1G>C
ENST00000268124.9:c.2735-1G>C ENSP00000268124.5:n.2735-1G>C
ENST00000442287.6:c.2735-1G>C ENSP00000399851.2:n.2735-1G>C
ENST00000528881.2:c.332-1G>C
ENST00000530715.5:c.186-144G>C ENSP00000431395.1:n.186-144G>C
ENST00000631044.2:c.*2159-1G>C ENSP00000486730.1:n.*2159-1G>C
NM_001126131.1:c.2735-1G>C NP_001119603.1:n.2735-1G>C
NM_002693.2:c.2735-1G>C NP_002684.1:n.2735-1G>C
NM_001126131.2:c.2735-1G>C NP_001119603.1:n.2735-1G>C
NM_002693.3:c.2735-1G>C MANE Select NP_002684.1:n.2735-1G>C