Canonical Allele Identifier: CA393754470
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321800A>G , CM000677.2:g.89321800A>G GRCh38
NC_000015.9:g.89865031A>G , CM000677.1:g.89865031A>G GRCh37
NC_000015.8:g.87666035A>G NCBI36
NG_008218.1:g.17996T>C
NG_008218.2:g.17996T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2534T>C ENSP00000516154.1:p.Val845Ala
ENST00000268124.11:c.2534T>C MANE Select ENSP00000268124.5:p.Val845Ala
ENST00000530292.3:c.2135T>C ENSP00000432885.2:p.Val712Ala
ENST00000635986.2:c.2534T>C ENSP00000490653.2:p.Val845Ala
ENST00000636774.1:c.*1101T>C ENSP00000489799.1:n.*1101T>C
ENST00000637238.1:c.1231T>C ENSP00000490756.1:n.1231T>C
ENST00000637264.1:c.1606T>C
ENST00000666746.1:c.2111T>C
ENST00000670281.1:c.800+162T>C ENSP00000499709.1:n.800+162T>C
ENST00000672071.1:n.2732T>C
ENST00000672923.2:n.2476T>C
ENST00000268124.9:c.2534T>C ENSP00000268124.5:p.Val845Ala
ENST00000442287.6:c.2534T>C ENSP00000399851.2:p.Val845Ala
ENST00000528881.2:c.196-540T>C
ENST00000530715.5:c.186-931T>C ENSP00000431395.1:n.186-931T>C
ENST00000532584.5:n.683T>C
ENST00000631044.2:c.*1958T>C ENSP00000486730.1:n.*1958T>C
NM_001126131.1:c.2534T>C NP_001119603.1:p.Val845Ala
NM_002693.2:c.2534T>C NP_002684.1:p.Val845Ala
NM_001126131.2:c.2534T>C NP_001119603.1:p.Val845Ala
NM_002693.3:c.2534T>C MANE Select NP_002684.1:p.Val845Ala