Canonical Allele Identifier: CA2194548912
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325281A= , CM000677.2:g.89325281A= GRCh38
NC_000015.9:g.89868512A= , CM000677.1:g.89868512A= GRCh37
NC_000015.8:g.87669516A= NCBI36
NG_008218.1:g.14515T=
NG_008218.2:g.14515T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1949+169T= ENSP00000516154.1:n.1949+169T=
ENST00000268124.11:c.1949+169T= MANE Select ENSP00000268124.5:n.1949+169T=
ENST00000530292.3:c.1550+169T= ENSP00000432885.2:n.1550+169T=
ENST00000635986.2:c.1949+169T= ENSP00000490653.2:n.1949+169T=
ENST00000636774.1:c.*516+169T= ENSP00000489799.1:n.*516+169T=
ENST00000637238.1:c.646+209T= ENSP00000490756.1:n.646+209T=
ENST00000637264.1:c.1021+169T=
ENST00000666746.1:c.1526+169T=
ENST00000670281.1:c.269+169T= ENSP00000499709.1:n.269+169T=
ENST00000672071.1:n.2147+169T=
ENST00000672923.2:n.2052+169T=
ENST00000268124.9:c.1949+169T= ENSP00000268124.5:n.1949+169T=
ENST00000442287.6:c.1949+169T= ENSP00000399851.2:n.1949+169T=
ENST00000526314.2:c.331+169T=
ENST00000526398.1:c.138+169T=
ENST00000526573.1:n.35+169T=
ENST00000532584.5:n.151+169T=
ENST00000631044.2:c.*1332+169T= ENSP00000486730.1:n.*1332+169T=
NM_001126131.1:c.1949+169T= NP_001119603.1:n.1949+169T=
NM_002693.2:c.1949+169T= NP_002684.1:n.1949+169T=
NM_001126131.2:c.1949+169T= NP_001119603.1:n.1949+169T=
NM_002693.3:c.1949+169T= MANE Select NP_002684.1:n.1949+169T=