Canonical Allele Identifier: CA393754790
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321850G>T , CM000677.2:g.89321850G>T GRCh38
NC_000015.9:g.89865081G>T , CM000677.1:g.89865081G>T GRCh37
NC_000015.8:g.87666085G>T NCBI36
NG_008218.1:g.17946C>A
NG_008218.2:g.17946C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2484C>A ENSP00000516154.1:p.His828Gln
ENST00000268124.11:c.2484C>A MANE Select ENSP00000268124.5:p.His828Gln
ENST00000530292.3:c.2085C>A ENSP00000432885.2:p.His695Gln
ENST00000635986.2:c.2484C>A ENSP00000490653.2:p.His828Gln
ENST00000636774.1:c.*1051C>A ENSP00000489799.1:n.*1051C>A
ENST00000637238.1:c.1181C>A ENSP00000490756.1:n.1181C>A
ENST00000637264.1:c.1556C>A
ENST00000666746.1:c.2061C>A
ENST00000670281.1:c.800+112C>A ENSP00000499709.1:n.800+112C>A
ENST00000672071.1:n.2682C>A
ENST00000672923.2:n.2426C>A
ENST00000268124.9:c.2484C>A ENSP00000268124.5:p.His828Gln
ENST00000442287.6:c.2484C>A ENSP00000399851.2:p.His828Gln
ENST00000528881.2:c.196-590C>A
ENST00000530715.5:c.185+892C>A ENSP00000431395.1:n.185+892C>A
ENST00000532584.5:n.633C>A
ENST00000631044.2:c.*1908C>A ENSP00000486730.1:n.*1908C>A
NM_001126131.1:c.2484C>A NP_001119603.1:p.His828Gln
NM_002693.2:c.2484C>A NP_002684.1:p.His828Gln
NM_001126131.2:c.2484C>A NP_001119603.1:p.His828Gln
NM_002693.3:c.2484C>A MANE Select NP_002684.1:p.His828Gln