Canonical Allele Identifier: CA393750025
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3320A>T ENSP00000516154.1:p.Asp1107Val
ENST00000268124.11:c.3320A>T MANE Select ENSP00000268124.5:p.Asp1107Val
ENST00000530292.3:c.2921A>T ENSP00000432885.2:p.Asp974Val
ENST00000635986.2:c.*390A>T ENSP00000490653.2:n.*390A>T
ENST00000636774.1:c.*1887A>T ENSP00000489799.1:n.*1887A>T
ENST00000637238.1:c.2129A>T ENSP00000490756.1:n.2129A>T
ENST00000637264.1:c.2392A>T
ENST00000666746.1:c.2897A>T
ENST00000672071.1:n.3518A>T
ENST00000672695.1:n.497A>T
ENST00000672923.2:n.3320A>T
ENST00000268124.9:c.3320A>T ENSP00000268124.5:p.Asp1107Val
ENST00000442287.6:c.3320A>T ENSP00000399851.2:p.Asp1107Val
ENST00000530292.2:c.404A>T ENSP00000432885.1:p.Asp135Val
ENST00000631044.2:c.*2744A>T ENSP00000486730.1:n.*2744A>T
NM_001126131.1:c.3320A>T NP_001119603.1:p.Asp1107Val
NM_002693.2:c.3320A>T NP_002684.1:p.Asp1107Val
NM_001126131.2:c.3320A>T NP_001119603.1:p.Asp1107Val
NM_002693.3:c.3320A>T MANE Select NP_002684.1:p.Asp1107Val