Canonical Allele Identifier: CA2194539396
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317499G= , CM000677.2:g.89317499G= GRCh38
NC_000015.9:g.89860730G= , CM000677.1:g.89860730G= GRCh37
NC_000015.8:g.87661734G= NCBI36
NG_008218.1:g.22297C=
NG_011736.1:g.78537G= , LRG_500:g.78537G=
NG_008218.2:g.22297C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3520C= ENSP00000516154.1:p.Pro1174=
ENST00000268124.11:c.3520C= MANE Select ENSP00000268124.5:p.Pro1174=
ENST00000530292.3:c.3220C= ENSP00000432885.2:n.3220C=
ENST00000635986.2:c.*590C= ENSP00000490653.2:n.*590C=
ENST00000636774.1:c.*2124C= ENSP00000489799.1:n.*2124C=
ENST00000637042.1:n.72-28C=
ENST00000637238.1:c.2428C= ENSP00000490756.1:n.2428C=
ENST00000637264.1:c.2555-23C=
ENST00000666746.1:c.3097C=
ENST00000672071.1:n.4722C=
ENST00000672695.1:n.1299C=
ENST00000672923.2:n.3520C=
ENST00000268124.9:c.3520C= ENSP00000268124.5:p.Pro1174=
ENST00000442287.6:c.3520C= ENSP00000399851.2:p.Pro1174=
ENST00000526671.1:n.330C=
ENST00000530292.2:c.703C= ENSP00000432885.1:n.703C=
ENST00000631044.2:c.*2944C= ENSP00000486730.1:n.*2944C=
NM_001126131.1:c.3520C= NP_001119603.1:p.Pro1174=
NM_002693.2:c.3520C= NP_002684.1:p.Pro1174=
NM_001126131.2:c.3520C= NP_001119603.1:p.Pro1174=
NM_002693.3:c.3520C= MANE Select NP_002684.1:p.Pro1174=