Canonical Allele Identifier: CA2194542200
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318729A= , CM000677.2:g.89318729A= GRCh38
NC_000015.9:g.89861960A= , CM000677.1:g.89861960A= GRCh37
NC_000015.8:g.87662964A= NCBI36
NG_008218.1:g.21067T=
NG_011736.1:g.79767A= , LRG_500:g.79767A=
NG_008218.2:g.21067T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3294T= ENSP00000516154.1:p.Asn1098=
ENST00000268124.11:c.3294T= MANE Select ENSP00000268124.5:p.Asn1098=
ENST00000530292.3:c.2895T= ENSP00000432885.2:p.Asn965=
ENST00000635986.2:c.*364T= ENSP00000490653.2:n.*364T=
ENST00000636774.1:c.*1861T= ENSP00000489799.1:n.*1861T=
ENST00000637238.1:c.2103T= ENSP00000490756.1:n.2103T=
ENST00000637264.1:c.2366T=
ENST00000666746.1:c.2871T=
ENST00000672071.1:n.3492T=
ENST00000672695.1:n.471T=
ENST00000672923.2:n.3294T=
ENST00000268124.9:c.3294T= ENSP00000268124.5:p.Asn1098=
ENST00000442287.6:c.3294T= ENSP00000399851.2:p.Asn1098=
ENST00000530292.2:c.378T= ENSP00000432885.1:p.Asn126=
ENST00000631044.2:c.*2718T= ENSP00000486730.1:n.*2718T=
NM_001126131.1:c.3294T= NP_001119603.1:p.Asn1098=
NM_002693.2:c.3294T= NP_002684.1:p.Asn1098=
NM_001126131.2:c.3294T= NP_001119603.1:p.Asn1098=
NM_002693.3:c.3294T= MANE Select NP_002684.1:p.Asn1098=