Canonical Allele Identifier: CA7724195

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318946C>T , CM000677.2:g.89318946C>T	GRCh38
NC_000015.9:g.89862177C>T , CM000677.1:g.89862177C>T	GRCh37
NC_000015.8:g.87663181C>T	NCBI36
NG_008218.1:g.20850G>A
NG_011736.1:g.79984C>T , LRG_500:g.79984C>T
NG_008218.2:g.20850G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3258G>A MANE Select	NP_002684.1:p.Ser1086=
ENST00000268124.11:c.3258G>A MANE Select	ENSP00000268124.5:p.Ser1086=
NM_001126131.1:c.3258G>A	NP_001119603.1:p.Ser1086=
NM_001126131.2:c.3258G>A	NP_001119603.1:p.Ser1086=
NM_002693.2:c.3258G>A	NP_002684.1:p.Ser1086=
ENST00000268124.9:c.3258G>A	ENSP00000268124.5:p.Ser1086=
ENST00000442287.6:c.3258G>A	ENSP00000399851.2:p.Ser1086=
ENST00000530292.2:c.342G>A	ENSP00000432885.1:p.Ser114=
ENST00000530292.3:c.2859G>A	ENSP00000432885.2:p.Ser953=
ENST00000631044.2:c.*2682G>A	ENSP00000486730.1:n.*2682G>A
ENST00000635986.2:c.*328G>A	ENSP00000490653.2:n.*328G>A
ENST00000636774.1:c.*1825G>A	ENSP00000489799.1:n.*1825G>A
ENST00000636937.2:c.3258G>A	ENSP00000516154.1:p.Ser1086=
ENST00000637238.1:c.2067G>A	ENSP00000490756.1:n.2067G>A
ENST00000637264.1:c.2330G>A
ENST00000666746.1:c.2835G>A
ENST00000672071.1:n.3456G>A
ENST00000672695.1:n.435G>A
ENST00000672923.2:n.3258G>A