Canonical Allele Identifier: CA393751315
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89319261T>G , CM000677.2:g.89319261T>G GRCh38
NC_000015.9:g.89862492T>G , CM000677.1:g.89862492T>G GRCh37
NC_000015.8:g.87663496T>G NCBI36
NG_008218.1:g.20535A>C
NG_008218.2:g.20535A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.3071A>C ENSP00000516154.1:p.Asp1024Ala
ENST00000268124.11:c.3071A>C MANE Select ENSP00000268124.5:p.Asp1024Ala
ENST00000530292.3:c.2672A>C ENSP00000432885.2:p.Asp891Ala
ENST00000635986.2:c.*141A>C ENSP00000490653.2:n.*141A>C
ENST00000636530.1:n.31A>C
ENST00000636774.1:c.*1638A>C ENSP00000489799.1:n.*1638A>C
ENST00000637238.1:c.1880A>C ENSP00000490756.1:n.1880A>C
ENST00000637264.1:c.2143A>C
ENST00000666746.1:c.2648A>C
ENST00000672071.1:n.3269A>C
ENST00000672695.1:n.248A>C
ENST00000672923.2:n.3071A>C
ENST00000268124.9:c.3071A>C ENSP00000268124.5:p.Asp1024Ala
ENST00000442287.6:c.3071A>C ENSP00000399851.2:p.Asp1024Ala
ENST00000530292.2:c.155A>C ENSP00000432885.1:p.Asp52Ala
ENST00000631044.2:c.*2495A>C ENSP00000486730.1:n.*2495A>C
NM_001126131.1:c.3071A>C NP_001119603.1:p.Asp1024Ala
NM_002693.2:c.3071A>C NP_002684.1:p.Asp1024Ala
NM_001126131.2:c.3071A>C NP_001119603.1:p.Asp1024Ala
NM_002693.3:c.3071A>C MANE Select NP_002684.1:p.Asp1024Ala