Canonical Allele Identifier: CA393752912
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320914G>T , CM000677.2:g.89320914G>T GRCh38
NC_000015.9:g.89864145G>T , CM000677.1:g.89864145G>T GRCh37
NC_000015.8:g.87665149G>T NCBI36
NG_008218.1:g.18882C>A
NG_008218.2:g.18882C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2833C>A ENSP00000516154.1:p.His945Asn
ENST00000268124.11:c.2833C>A MANE Select ENSP00000268124.5:p.His945Asn
ENST00000530292.3:c.2434C>A ENSP00000432885.2:p.His812Asn
ENST00000635986.2:c.2833C>A ENSP00000490653.2:p.His945Asn
ENST00000636774.1:c.*1400C>A ENSP00000489799.1:n.*1400C>A
ENST00000637238.1:c.1642C>A ENSP00000490756.1:n.1642C>A
ENST00000637264.1:c.1905C>A
ENST00000666746.1:c.2410C>A
ENST00000670281.1:c.800+1048C>A ENSP00000499709.1:n.800+1048C>A
ENST00000672071.1:n.3031C>A
ENST00000672695.1:n.10C>A
ENST00000672923.2:n.2775C>A
ENST00000268124.9:c.2833C>A ENSP00000268124.5:p.His945Asn
ENST00000442287.6:c.2833C>A ENSP00000399851.2:p.His945Asn
ENST00000528881.2:c.430C>A
ENST00000530715.5:c.186-45C>A ENSP00000431395.1:n.186-45C>A
ENST00000631044.2:c.*2257C>A ENSP00000486730.1:n.*2257C>A
NM_001126131.1:c.2833C>A NP_001119603.1:p.His945Asn
NM_002693.2:c.2833C>A NP_002684.1:p.His945Asn
NM_001126131.2:c.2833C>A NP_001119603.1:p.His945Asn
NM_002693.3:c.2833C>A MANE Select NP_002684.1:p.His945Asn