Canonical Allele Identifier: CA2194538995
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317407A= , CM000677.2:g.89317407A= GRCh38
NC_000015.9:g.89860638A= , CM000677.1:g.89860638A= GRCh37
NC_000015.8:g.87661642A= NCBI36
NG_008218.1:g.22389T=
NG_011736.1:g.78445A= , LRG_500:g.78445A=
NG_008218.2:g.22389T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3612T= ENSP00000516154.1:p.Thr1204=
ENST00000268124.11:c.3612T= MANE Select ENSP00000268124.5:p.Thr1204=
ENST00000530292.3:c.3312T= ENSP00000432885.2:n.3312T=
ENST00000635986.2:c.*682T= ENSP00000490653.2:n.*682T=
ENST00000636774.1:c.*2216T= ENSP00000489799.1:n.*2216T=
ENST00000637238.1:c.2520T= ENSP00000490756.1:n.2520T=
ENST00000637264.1:c.2624T=
ENST00000666746.1:c.3189T=
ENST00000672071.1:n.4814T=
ENST00000672695.1:n.1391T=
ENST00000672923.2:n.3612T=
ENST00000268124.9:c.3612T= ENSP00000268124.5:p.Thr1204=
ENST00000442287.6:c.3612T= ENSP00000399851.2:p.Thr1204=
ENST00000526671.1:n.422T=
ENST00000530292.2:c.795T= ENSP00000432885.1:n.795T=
ENST00000631044.2:c.*3036T= ENSP00000486730.1:n.*3036T=
NM_001126131.1:c.3612T= NP_001119603.1:p.Thr1204=
NM_002693.2:c.3612T= NP_002684.1:p.Thr1204=
NM_001126131.2:c.3612T= NP_001119603.1:p.Thr1204=
NM_002693.3:c.3612T= MANE Select NP_002684.1:p.Thr1204=