Canonical Allele Identifier: CA2630254597
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321867G>T , CM000677.2:g.89321867G>T GRCh38
NC_000015.9:g.89865098G>T , CM000677.1:g.89865098G>T GRCh37
NC_000015.8:g.87666102G>T NCBI36
NG_008218.1:g.17929C>A
NG_008218.2:g.17929C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2481-14C>A ENSP00000516154.1:n.2481-14C>A
ENST00000268124.11:c.2481-14C>A MANE Select ENSP00000268124.5:n.2481-14C>A
ENST00000530292.3:c.2082-14C>A ENSP00000432885.2:n.2082-14C>A
ENST00000635986.2:c.2481-14C>A ENSP00000490653.2:n.2481-14C>A
ENST00000636774.1:c.*1048-14C>A ENSP00000489799.1:n.*1048-14C>A
ENST00000637238.1:c.1178-14C>A ENSP00000490756.1:n.1178-14C>A
ENST00000637264.1:c.1553-14C>A
ENST00000666746.1:c.2058-14C>A
ENST00000670281.1:c.800+95C>A ENSP00000499709.1:n.800+95C>A
ENST00000672071.1:n.2679-14C>A
ENST00000672923.2:n.2423-14C>A
ENST00000268124.9:c.2481-14C>A ENSP00000268124.5:n.2481-14C>A
ENST00000442287.6:c.2481-14C>A ENSP00000399851.2:n.2481-14C>A
ENST00000528881.2:c.196-607C>A
ENST00000530715.5:c.185+875C>A ENSP00000431395.1:n.185+875C>A
ENST00000532584.5:n.616C>A
ENST00000631044.2:c.*1905-14C>A ENSP00000486730.1:n.*1905-14C>A
NM_001126131.1:c.2481-14C>A NP_001119603.1:n.2481-14C>A
NM_002693.2:c.2481-14C>A NP_002684.1:n.2481-14C>A
NM_001126131.2:c.2481-14C>A NP_001119603.1:n.2481-14C>A
NM_002693.3:c.2481-14C>A MANE Select NP_002684.1:n.2481-14C>A