Canonical Allele Identifier: CA393754454

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321795C>T , CM000677.2:g.89321795C>T	GRCh38
NC_000015.9:g.89865026C>T , CM000677.1:g.89865026C>T	GRCh37
NC_000015.8:g.87666030C>T	NCBI36
NG_008218.1:g.18001G>A
NG_008218.2:g.18001G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2539G>A MANE Select	NP_002684.1:p.Ala847Thr
ENST00000268124.11:c.2539G>A MANE Select	ENSP00000268124.5:p.Ala847Thr
NM_001126131.1:c.2539G>A	NP_001119603.1:p.Ala847Thr
NM_001126131.2:c.2539G>A	NP_001119603.1:p.Ala847Thr
NM_002693.2:c.2539G>A	NP_002684.1:p.Ala847Thr
ENST00000268124.9:c.2539G>A	ENSP00000268124.5:p.Ala847Thr
ENST00000442287.6:c.2539G>A	ENSP00000399851.2:p.Ala847Thr
ENST00000528881.2:c.196-535G>A
ENST00000530292.3:c.2140G>A	ENSP00000432885.2:p.Ala714Thr
ENST00000530715.5:c.186-926G>A	ENSP00000431395.1:n.186-926G>A
ENST00000532584.5:n.688G>A
ENST00000631044.2:c.*1963G>A	ENSP00000486730.1:n.*1963G>A
ENST00000635986.2:c.2539G>A	ENSP00000490653.2:p.Ala847Thr
ENST00000636774.1:c.*1106G>A	ENSP00000489799.1:n.*1106G>A
ENST00000636937.2:c.2539G>A	ENSP00000516154.1:p.Ala847Thr
ENST00000637238.1:c.1236G>A	ENSP00000490756.1:n.1236G>A
ENST00000637264.1:c.1611G>A
ENST00000666746.1:c.2116G>A
ENST00000670281.1:c.800+167G>A	ENSP00000499709.1:n.800+167G>A
ENST00000672071.1:n.2737G>A
ENST00000672923.2:n.2481G>A