Canonical Allele Identifier: CA7724267

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319308C>T , CM000677.2:g.89319308C>T	GRCh38
NC_000015.9:g.89862539C>T , CM000677.1:g.89862539C>T	GRCh37
NC_000015.8:g.87663543C>T	NCBI36
NG_008218.1:g.20488G>A
NG_008218.2:g.20488G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3024G>A MANE Select	NP_002684.1:p.Leu1008=
ENST00000268124.11:c.3024G>A MANE Select	ENSP00000268124.5:p.Leu1008=
NM_001126131.1:c.3024G>A	NP_001119603.1:p.Leu1008=
NM_001126131.2:c.3024G>A	NP_001119603.1:p.Leu1008=
NM_002693.2:c.3024G>A	NP_002684.1:p.Leu1008=
ENST00000268124.9:c.3024G>A	ENSP00000268124.5:p.Leu1008=
ENST00000442287.6:c.3024G>A	ENSP00000399851.2:p.Leu1008=
ENST00000530292.2:c.108G>A	ENSP00000432885.1:p.Leu36=
ENST00000530292.3:c.2625G>A	ENSP00000432885.2:p.Leu875=
ENST00000530715.5:c.332G>A	ENSP00000431395.1:n.332G>A
ENST00000631044.2:c.*2448G>A	ENSP00000486730.1:n.*2448G>A
ENST00000635986.2:c.*94G>A	ENSP00000490653.2:n.*94G>A
ENST00000636530.1:n.29+43G>A
ENST00000636774.1:c.*1591G>A	ENSP00000489799.1:n.*1591G>A
ENST00000636937.2:c.3024G>A	ENSP00000516154.1:p.Leu1008=
ENST00000637238.1:c.1833G>A	ENSP00000490756.1:n.1833G>A
ENST00000637264.1:c.2096G>A
ENST00000666746.1:c.2601G>A
ENST00000670281.1:c.843G>A	ENSP00000499709.1:p.Leu281=
ENST00000672071.1:n.3222G>A
ENST00000672695.1:n.201G>A
ENST00000672923.2:n.3024G>A