Canonical Allele Identifier: CA2194539511
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317520T= , CM000677.2:g.89317520T= GRCh38
NC_000015.9:g.89860751T= , CM000677.1:g.89860751T= GRCh37
NC_000015.8:g.87661755T= NCBI36
NG_008218.1:g.22276A=
NG_011736.1:g.78558T= , LRG_500:g.78558T=
NG_008218.2:g.22276A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3499A= ENSP00000516154.1:p.Lys1167=
ENST00000268124.11:c.3499A= MANE Select ENSP00000268124.5:p.Lys1167=
ENST00000530292.3:c.3199A= ENSP00000432885.2:n.3199A=
ENST00000635986.2:c.*569A= ENSP00000490653.2:n.*569A=
ENST00000636774.1:c.*2103A= ENSP00000489799.1:n.*2103A=
ENST00000637042.1:n.72-49A=
ENST00000637238.1:c.2407A= ENSP00000490756.1:n.2407A=
ENST00000637264.1:c.2555-44A=
ENST00000666746.1:c.3076A=
ENST00000672071.1:n.4701A=
ENST00000672695.1:n.1278A=
ENST00000672923.2:n.3499A=
ENST00000268124.9:c.3499A= ENSP00000268124.5:p.Lys1167=
ENST00000442287.6:c.3499A= ENSP00000399851.2:p.Lys1167=
ENST00000526671.1:n.309A=
ENST00000530292.2:c.682A= ENSP00000432885.1:n.682A=
ENST00000631044.2:c.*2923A= ENSP00000486730.1:n.*2923A=
NM_001126131.1:c.3499A= NP_001119603.1:p.Lys1167=
NM_002693.2:c.3499A= NP_002684.1:p.Lys1167=
NM_001126131.2:c.3499A= NP_001119603.1:p.Lys1167=
NM_002693.3:c.3499A= MANE Select NP_002684.1:p.Lys1167=