Canonical Allele Identifier: CA2194562243
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89328894G= , CM000677.2:g.89328894G= GRCh38
NC_000015.9:g.89872125G= , CM000677.1:g.89872125G= GRCh37
NC_000015.8:g.87673129G= NCBI36
NG_008218.1:g.10902C=
NG_008218.2:g.10902C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1023+49C= ENSP00000516154.1:n.1023+49C=
ENST00000268124.11:c.1023+49C= MANE Select ENSP00000268124.5:n.1023+49C=
ENST00000530292.3:c.624+49C= ENSP00000432885.2:n.624+49C=
ENST00000635986.2:c.1023+49C= ENSP00000490653.2:n.1023+49C=
ENST00000636774.1:c.1023+49C= ENSP00000489799.1:n.1023+49C=
ENST00000637264.1:c.95+49C=
ENST00000666746.1:c.680+49C=
ENST00000672071.1:n.1221+49C=
ENST00000672923.2:n.20+49C=
ENST00000268124.9:c.1023+49C= ENSP00000268124.5:n.1023+49C=
ENST00000442287.6:c.1023+49C= ENSP00000399851.2:n.1023+49C=
ENST00000631044.2:c.*406+49C= ENSP00000486730.1:n.*406+49C=
NM_001126131.1:c.1023+49C= NP_001119603.1:n.1023+49C=
NM_002693.2:c.1023+49C= NP_002684.1:n.1023+49C=
NM_001126131.2:c.1023+49C= NP_001119603.1:n.1023+49C=
NM_002693.3:c.1023+49C= MANE Select NP_002684.1:n.1023+49C=