Canonical Allele Identifier: CA393754405

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321783T>A , CM000677.2:g.89321783T>A	GRCh38
NC_000015.9:g.89865014T>A , CM000677.1:g.89865014T>A	GRCh37
NC_000015.8:g.87666018T>A	NCBI36
NG_008218.1:g.18013A>T
NG_008218.2:g.18013A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2551A>T MANE Select	NP_002684.1:p.Thr851Ser
ENST00000268124.11:c.2551A>T MANE Select	ENSP00000268124.5:p.Thr851Ser
NM_001126131.1:c.2551A>T	NP_001119603.1:p.Thr851Ser
NM_001126131.2:c.2551A>T	NP_001119603.1:p.Thr851Ser
NM_002693.2:c.2551A>T	NP_002684.1:p.Thr851Ser
ENST00000268124.9:c.2551A>T	ENSP00000268124.5:p.Thr851Ser
ENST00000442287.6:c.2551A>T	ENSP00000399851.2:p.Thr851Ser
ENST00000528881.2:c.196-523A>T
ENST00000530292.3:c.2152A>T	ENSP00000432885.2:p.Thr718Ser
ENST00000530715.5:c.186-914A>T	ENSP00000431395.1:n.186-914A>T
ENST00000532584.5:n.700A>T
ENST00000631044.2:c.*1975A>T	ENSP00000486730.1:n.*1975A>T
ENST00000635986.2:c.2551A>T	ENSP00000490653.2:p.Thr851Ser
ENST00000636774.1:c.*1118A>T	ENSP00000489799.1:n.*1118A>T
ENST00000636937.2:c.2551A>T	ENSP00000516154.1:p.Thr851Ser
ENST00000637238.1:c.1248A>T	ENSP00000490756.1:n.1248A>T
ENST00000637264.1:c.1623A>T
ENST00000666746.1:c.2128A>T
ENST00000670281.1:c.800+179A>T	ENSP00000499709.1:n.800+179A>T
ENST00000672071.1:n.2749A>T
ENST00000672923.2:n.2493A>T