Canonical Allele Identifier: CA10602323
Gene: POLG HGNC NCBI
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318925A>T , CM000677.2:g.89318925A>T GRCh38
NC_000015.9:g.89862156A>T , CM000677.1:g.89862156A>T GRCh37
NC_000015.8:g.87663160A>T NCBI36
NG_008218.1:g.20871T>A
NG_011736.1:g.79963A>T , LRG_500:g.79963A>T
NG_008218.2:g.20871T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3273+6T>A ENSP00000516154.1:n.3273+6T>A
ENST00000268124.11:c.3273+6T>A MANE Select ENSP00000268124.5:n.3273+6T>A
ENST00000530292.3:c.2874+6T>A ENSP00000432885.2:n.2874+6T>A
ENST00000635986.2:c.*343+6T>A ENSP00000490653.2:n.*343+6T>A
ENST00000636774.1:c.*1840+6T>A ENSP00000489799.1:n.*1840+6T>A
ENST00000637238.1:c.2082+6T>A ENSP00000490756.1:n.2082+6T>A
ENST00000637264.1:c.2345+6T>A
ENST00000666746.1:c.2850+6T>A
ENST00000672071.1:n.3471+6T>A
ENST00000672695.1:n.450+6T>A
ENST00000672923.2:n.3273+6T>A
ENST00000268124.9:c.3273+6T>A ENSP00000268124.5:n.3273+6T>A
ENST00000442287.6:c.3273+6T>A ENSP00000399851.2:n.3273+6T>A
ENST00000530292.2:c.357+6T>A ENSP00000432885.1:n.357+6T>A
ENST00000631044.2:c.*2697+6T>A ENSP00000486730.1:n.*2697+6T>A
NM_001126131.1:c.3273+6T>A NP_001119603.1:n.3273+6T>A
NM_002693.2:c.3273+6T>A NP_002684.1:n.3273+6T>A
NM_001126131.2:c.3273+6T>A NP_001119603.1:n.3273+6T>A
NM_002693.3:c.3273+6T>A MANE Select NP_002684.1:n.3273+6T>A