Canonical Allele Identifier: CA2194549006
Community Standard Title: NM_002693.3(POLG):c.2617G= (p.Glu873=)
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321242C= , CM000677.2:g.89321242C= GRCh38
NC_000015.9:g.89864473C= , CM000677.1:g.89864473C= GRCh37
NC_000015.8:g.87665477C= NCBI36
NG_008218.1:g.18554G=
NG_008218.2:g.18554G=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.2617G= MANE Select NP_002684.1:p.Glu873=
ENST00000268124.11:c.2617G= MANE Select ENSP00000268124.5:p.Glu873=
NM_001126131.1:c.2617G= NP_001119603.1:p.Glu873=
NM_001126131.2:c.2617G= NP_001119603.1:p.Glu873=
NM_002693.2:c.2617G= NP_002684.1:p.Glu873=
ENST00000268124.9:c.2617G= ENSP00000268124.5:p.Glu873=
ENST00000442287.6:c.2617G= ENSP00000399851.2:p.Glu873=
ENST00000528881.2:c.214G=
ENST00000530292.3:c.2218G= ENSP00000432885.2:p.Glu740=
ENST00000530715.5:c.186-373G= ENSP00000431395.1:n.186-373G=
ENST00000631044.2:c.*2041G= ENSP00000486730.1:n.*2041G=
ENST00000635986.2:c.2617G= ENSP00000490653.2:p.Glu873=
ENST00000636774.1:c.*1184G= ENSP00000489799.1:n.*1184G=
ENST00000636937.2:c.2617G= ENSP00000516154.1:p.Glu873=
ENST00000637238.1:c.1314G= ENSP00000490756.1:n.1314G=
ENST00000637264.1:c.1689G=
ENST00000666746.1:c.2194G=
ENST00000670281.1:c.800+720G= ENSP00000499709.1:n.800+720G=
ENST00000672071.1:n.2815G=
ENST00000672923.2:n.2559G=