Canonical Allele Identifier: CA2194539273
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317464A= , CM000677.2:g.89317464A= GRCh38
NC_000015.9:g.89860695A= , CM000677.1:g.89860695A= GRCh37
NC_000015.8:g.87661699A= NCBI36
NG_008218.1:g.22332T=
NG_011736.1:g.78502A= , LRG_500:g.78502A=
NG_008218.2:g.22332T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3555T= ENSP00000516154.1:p.Ile1185=
ENST00000268124.11:c.3555T= MANE Select ENSP00000268124.5:p.Ile1185=
ENST00000530292.3:c.3255T= ENSP00000432885.2:n.3255T=
ENST00000635986.2:c.*625T= ENSP00000490653.2:n.*625T=
ENST00000636774.1:c.*2159T= ENSP00000489799.1:n.*2159T=
ENST00000637042.1:n.79T=
ENST00000637238.1:c.2463T= ENSP00000490756.1:n.2463T=
ENST00000637264.1:c.2567T=
ENST00000666746.1:c.3132T=
ENST00000672071.1:n.4757T=
ENST00000672695.1:n.1334T=
ENST00000672923.2:n.3555T=
ENST00000268124.9:c.3555T= ENSP00000268124.5:p.Ile1185=
ENST00000442287.6:c.3555T= ENSP00000399851.2:p.Ile1185=
ENST00000526671.1:n.365T=
ENST00000530292.2:c.738T= ENSP00000432885.1:n.738T=
ENST00000631044.2:c.*2979T= ENSP00000486730.1:n.*2979T=
NM_001126131.1:c.3555T= NP_001119603.1:p.Ile1185=
NM_002693.2:c.3555T= NP_002684.1:p.Ile1185=
NM_001126131.2:c.3555T= NP_001119603.1:p.Ile1185=
NM_002693.3:c.3555T= MANE Select NP_002684.1:p.Ile1185=