Canonical Allele Identifier: CA2194542086
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318703T= , CM000677.2:g.89318703T= GRCh38
NC_000015.9:g.89861934T= , CM000677.1:g.89861934T= GRCh37
NC_000015.8:g.87662938T= NCBI36
NG_008218.1:g.21093A=
NG_011736.1:g.79741T= , LRG_500:g.79741T=
NG_008218.2:g.21093A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3320A= ENSP00000516154.1:p.Asp1107=
ENST00000268124.11:c.3320A= MANE Select ENSP00000268124.5:p.Asp1107=
ENST00000530292.3:c.2921A= ENSP00000432885.2:p.Asp974=
ENST00000635986.2:c.*390A= ENSP00000490653.2:n.*390A=
ENST00000636774.1:c.*1887A= ENSP00000489799.1:n.*1887A=
ENST00000637238.1:c.2129A= ENSP00000490756.1:n.2129A=
ENST00000637264.1:c.2392A=
ENST00000666746.1:c.2897A=
ENST00000672071.1:n.3518A=
ENST00000672695.1:n.497A=
ENST00000672923.2:n.3320A=
ENST00000268124.9:c.3320A= ENSP00000268124.5:p.Asp1107=
ENST00000442287.6:c.3320A= ENSP00000399851.2:p.Asp1107=
ENST00000530292.2:c.404A= ENSP00000432885.1:p.Asp135=
ENST00000631044.2:c.*2744A= ENSP00000486730.1:n.*2744A=
NM_001126131.1:c.3320A= NP_001119603.1:p.Asp1107=
NM_002693.2:c.3320A= NP_002684.1:p.Asp1107=
NM_001126131.2:c.3320A= NP_001119603.1:p.Asp1107=
NM_002693.3:c.3320A= MANE Select NP_002684.1:p.Asp1107=