Canonical Allele Identifier: CA393754204

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321749G>A , CM000677.2:g.89321749G>A	GRCh38
NC_000015.9:g.89864980G>A , CM000677.1:g.89864980G>A	GRCh37
NC_000015.8:g.87665984G>A	NCBI36
NG_008218.1:g.18047C>T
NG_008218.2:g.18047C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2585C>T MANE Select	NP_002684.1:p.Ala862Val
ENST00000268124.11:c.2585C>T MANE Select	ENSP00000268124.5:p.Ala862Val
NM_001126131.1:c.2585C>T	NP_001119603.1:p.Ala862Val
NM_001126131.2:c.2585C>T	NP_001119603.1:p.Ala862Val
NM_002693.2:c.2585C>T	NP_002684.1:p.Ala862Val
ENST00000268124.9:c.2585C>T	ENSP00000268124.5:p.Ala862Val
ENST00000442287.6:c.2585C>T	ENSP00000399851.2:p.Ala862Val
ENST00000528881.2:c.196-489C>T
ENST00000530292.3:c.2186C>T	ENSP00000432885.2:p.Ala729Val
ENST00000530715.5:c.186-880C>T	ENSP00000431395.1:n.186-880C>T
ENST00000631044.2:c.*2009C>T	ENSP00000486730.1:n.*2009C>T
ENST00000635986.2:c.2585C>T	ENSP00000490653.2:p.Ala862Val
ENST00000636774.1:c.*1152C>T	ENSP00000489799.1:n.*1152C>T
ENST00000636937.2:c.2585C>T	ENSP00000516154.1:p.Ala862Val
ENST00000637238.1:c.1282C>T	ENSP00000490756.1:n.1282C>T
ENST00000637264.1:c.1657C>T
ENST00000666746.1:c.2162C>T
ENST00000670281.1:c.800+213C>T	ENSP00000499709.1:n.800+213C>T
ENST00000672071.1:n.2783C>T
ENST00000672923.2:n.2527C>T