Canonical Allele Identifier: CA7724426

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321782G>T , CM000677.2:g.89321782G>T	GRCh38
NC_000015.9:g.89865013G>T , CM000677.1:g.89865013G>T	GRCh37
NC_000015.8:g.87666017G>T	NCBI36
NG_008218.1:g.18014C>A
NG_008218.2:g.18014C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2552C>A MANE Select	NP_002684.1:p.Thr851Asn
ENST00000268124.11:c.2552C>A MANE Select	ENSP00000268124.5:p.Thr851Asn
NM_001126131.1:c.2552C>A	NP_001119603.1:p.Thr851Asn
NM_001126131.2:c.2552C>A	NP_001119603.1:p.Thr851Asn
NM_002693.2:c.2552C>A	NP_002684.1:p.Thr851Asn
ENST00000268124.9:c.2552C>A	ENSP00000268124.5:p.Thr851Asn
ENST00000442287.6:c.2552C>A	ENSP00000399851.2:p.Thr851Asn
ENST00000528881.2:c.196-522C>A
ENST00000530292.3:c.2153C>A	ENSP00000432885.2:p.Thr718Asn
ENST00000530715.5:c.186-913C>A	ENSP00000431395.1:n.186-913C>A
ENST00000532584.5:n.701C>A
ENST00000631044.2:c.*1976C>A	ENSP00000486730.1:n.*1976C>A
ENST00000635986.2:c.2552C>A	ENSP00000490653.2:p.Thr851Asn
ENST00000636774.1:c.*1119C>A	ENSP00000489799.1:n.*1119C>A
ENST00000636937.2:c.2552C>A	ENSP00000516154.1:p.Thr851Asn
ENST00000637238.1:c.1249C>A	ENSP00000490756.1:n.1249C>A
ENST00000637264.1:c.1624C>A
ENST00000666746.1:c.2129C>A
ENST00000670281.1:c.800+180C>A	ENSP00000499709.1:n.800+180C>A
ENST00000672071.1:n.2750C>A
ENST00000672923.2:n.2494C>A