Canonical Allele Identifier: CA2194538879
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317380G= , CM000677.2:g.89317380G= GRCh38
NC_000015.9:g.89860611G= , CM000677.1:g.89860611G= GRCh37
NC_000015.8:g.87661615G= NCBI36
NG_008218.1:g.22416C=
NG_011736.1:g.78418G= , LRG_500:g.78418G=
NG_008218.2:g.22416C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3639C= ENSP00000516154.1:p.Pro1213=
ENST00000268124.11:c.3639C= MANE Select ENSP00000268124.5:p.Pro1213=
ENST00000530292.3:c.3339C= ENSP00000432885.2:n.3339C=
ENST00000635986.2:c.*709C= ENSP00000490653.2:n.*709C=
ENST00000636774.1:c.*2243C= ENSP00000489799.1:n.*2243C=
ENST00000637238.1:c.2547C= ENSP00000490756.1:n.2547C=
ENST00000637264.1:c.2651C=
ENST00000666746.1:c.3216C=
ENST00000672071.1:n.4841C=
ENST00000672695.1:n.1418C=
ENST00000672923.2:n.3639C=
ENST00000268124.9:c.3639C= ENSP00000268124.5:p.Pro1213=
ENST00000442287.6:c.3639C= ENSP00000399851.2:p.Pro1213=
ENST00000526671.1:n.449C=
ENST00000530292.2:c.822C= ENSP00000432885.1:n.822C=
ENST00000631044.2:c.*3063C= ENSP00000486730.1:n.*3063C=
NM_001126131.1:c.3639C= NP_001119603.1:p.Pro1213=
NM_002693.2:c.3639C= NP_002684.1:p.Pro1213=
NM_001126131.2:c.3639C= NP_001119603.1:p.Pro1213=
NM_002693.3:c.3639C= MANE Select NP_002684.1:p.Pro1213=