Canonical Allele Identifier: CA2194549630
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325401A= , CM000677.2:g.89325401A= GRCh38
NC_000015.9:g.89868632A= , CM000677.1:g.89868632A= GRCh37
NC_000015.8:g.87669636A= NCBI36
NG_008218.1:g.14395T=
NG_008218.2:g.14395T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1949+49T= ENSP00000516154.1:n.1949+49T=
ENST00000268124.11:c.1949+49T= MANE Select ENSP00000268124.5:n.1949+49T=
ENST00000530292.3:c.1550+49T= ENSP00000432885.2:n.1550+49T=
ENST00000635986.2:c.1949+49T= ENSP00000490653.2:n.1949+49T=
ENST00000636774.1:c.*516+49T= ENSP00000489799.1:n.*516+49T=
ENST00000637238.1:c.646+89T= ENSP00000490756.1:n.646+89T=
ENST00000637264.1:c.1021+49T=
ENST00000666746.1:c.1526+49T=
ENST00000670281.1:c.269+49T= ENSP00000499709.1:n.269+49T=
ENST00000672071.1:n.2147+49T=
ENST00000672923.2:n.2052+49T=
ENST00000268124.9:c.1949+49T= ENSP00000268124.5:n.1949+49T=
ENST00000442287.6:c.1949+49T= ENSP00000399851.2:n.1949+49T=
ENST00000526314.2:c.331+49T=
ENST00000526398.1:c.138+49T=
ENST00000526573.1:n.35+49T=
ENST00000532584.5:n.151+49T=
ENST00000631044.2:c.*1332+49T= ENSP00000486730.1:n.*1332+49T=
NM_001126131.1:c.1949+49T= NP_001119603.1:n.1949+49T=
NM_002693.2:c.1949+49T= NP_002684.1:n.1949+49T=
NM_001126131.2:c.1949+49T= NP_001119603.1:n.1949+49T=
NM_002693.3:c.1949+49T= MANE Select NP_002684.1:n.1949+49T=