Canonical Allele Identifier: CA393753827

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321220G>T , CM000677.2:g.89321220G>T	GRCh38
NC_000015.9:g.89864451G>T , CM000677.1:g.89864451G>T	GRCh37
NC_000015.8:g.87665455G>T	NCBI36
NG_008218.1:g.18576C>A
NG_008218.2:g.18576C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2639C>A MANE Select	NP_002684.1:p.Ala880Asp
ENST00000268124.11:c.2639C>A MANE Select	ENSP00000268124.5:p.Ala880Asp
NM_001126131.1:c.2639C>A	NP_001119603.1:p.Ala880Asp
NM_001126131.2:c.2639C>A	NP_001119603.1:p.Ala880Asp
NM_002693.2:c.2639C>A	NP_002684.1:p.Ala880Asp
ENST00000268124.9:c.2639C>A	ENSP00000268124.5:p.Ala880Asp
ENST00000442287.6:c.2639C>A	ENSP00000399851.2:p.Ala880Asp
ENST00000528881.2:c.236C>A
ENST00000530292.3:c.2240C>A	ENSP00000432885.2:p.Ala747Asp
ENST00000530715.5:c.186-351C>A	ENSP00000431395.1:n.186-351C>A
ENST00000631044.2:c.*2063C>A	ENSP00000486730.1:n.*2063C>A
ENST00000635986.2:c.2639C>A	ENSP00000490653.2:p.Ala880Asp
ENST00000636774.1:c.*1206C>A	ENSP00000489799.1:n.*1206C>A
ENST00000636937.2:c.2639C>A	ENSP00000516154.1:p.Ala880Asp
ENST00000637238.1:c.1336C>A	ENSP00000490756.1:n.1336C>A
ENST00000637264.1:c.1711C>A
ENST00000666746.1:c.2216C>A
ENST00000670281.1:c.800+742C>A	ENSP00000499709.1:n.800+742C>A
ENST00000672071.1:n.2837C>A
ENST00000672923.2:n.2581C>A