Canonical Allele Identifier: CA393754119
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321734A>T , CM000677.2:g.89321734A>T GRCh38
NC_000015.9:g.89864965A>T , CM000677.1:g.89864965A>T GRCh37
NC_000015.8:g.87665969A>T NCBI36
NG_008218.1:g.18062T>A
NG_008218.2:g.18062T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2598+2T>A ENSP00000516154.1:n.2598+2T>A
ENST00000268124.11:c.2598+2T>A MANE Select ENSP00000268124.5:n.2598+2T>A
ENST00000530292.3:c.2199+2T>A ENSP00000432885.2:n.2199+2T>A
ENST00000635986.2:c.2598+2T>A ENSP00000490653.2:n.2598+2T>A
ENST00000636774.1:c.*1165+2T>A ENSP00000489799.1:n.*1165+2T>A
ENST00000637238.1:c.1295+2T>A ENSP00000490756.1:n.1295+2T>A
ENST00000637264.1:c.1670+2T>A
ENST00000666746.1:c.2175+2T>A
ENST00000670281.1:c.800+228T>A ENSP00000499709.1:n.800+228T>A
ENST00000672071.1:n.2796+2T>A
ENST00000672923.2:n.2540+2T>A
ENST00000268124.9:c.2598+2T>A ENSP00000268124.5:n.2598+2T>A
ENST00000442287.6:c.2598+2T>A ENSP00000399851.2:n.2598+2T>A
ENST00000528881.2:c.196-474T>A
ENST00000530715.5:c.186-865T>A ENSP00000431395.1:n.186-865T>A
ENST00000631044.2:c.*2022+2T>A ENSP00000486730.1:n.*2022+2T>A
NM_001126131.1:c.2598+2T>A NP_001119603.1:n.2598+2T>A
NM_002693.2:c.2598+2T>A NP_002684.1:n.2598+2T>A
NM_001126131.2:c.2598+2T>A NP_001119603.1:n.2598+2T>A
NM_002693.3:c.2598+2T>A MANE Select NP_002684.1:n.2598+2T>A