Canonical Allele Identifier: CA393756765
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323463T>C , CM000677.2:g.89323463T>C GRCh38
NC_000015.9:g.89866694T>C , CM000677.1:g.89866694T>C GRCh37
NC_000015.8:g.87667698T>C NCBI36
NG_008218.1:g.16333A>G
NG_008218.2:g.16333A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2206A>G ENSP00000516154.1:p.Asn736Asp
ENST00000268124.11:c.2206A>G MANE Select ENSP00000268124.5:p.Asn736Asp
ENST00000530292.3:c.1807A>G ENSP00000432885.2:p.Asn603Asp
ENST00000635986.2:c.2206A>G ENSP00000490653.2:p.Asn736Asp
ENST00000636774.1:c.*773A>G ENSP00000489799.1:n.*773A>G
ENST00000637238.1:c.903A>G ENSP00000490756.1:n.903A>G
ENST00000637264.1:c.1278A>G
ENST00000666746.1:c.1783A>G
ENST00000670281.1:c.526A>G ENSP00000499709.1:p.Asn176Asp
ENST00000672071.1:n.2404A>G
ENST00000672923.2:n.2309A>G
ENST00000268124.9:c.2206A>G ENSP00000268124.5:p.Asn736Asp
ENST00000442287.6:c.2206A>G ENSP00000399851.2:p.Asn736Asp
ENST00000526314.2:c.539+352A>G
ENST00000526398.1:c.355A>G
ENST00000532584.5:n.408A>G
ENST00000631044.2:c.*1630A>G ENSP00000486730.1:n.*1630A>G
NM_001126131.1:c.2206A>G NP_001119603.1:p.Asn736Asp
NM_002693.2:c.2206A>G NP_002684.1:p.Asn736Asp
NM_001126131.2:c.2206A>G NP_001119603.1:p.Asn736Asp
NM_002693.3:c.2206A>G MANE Select NP_002684.1:p.Asn736Asp