Canonical Allele Identifier: CA393747280

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317400C>T , CM000677.2:g.89317400C>T	GRCh38
NC_000015.9:g.89860631C>T , CM000677.1:g.89860631C>T	GRCh37
NC_000015.8:g.87661635C>T	NCBI36
NG_008218.1:g.22396G>A
NG_011736.1:g.78438C>T , LRG_500:g.78438C>T
NG_008218.2:g.22396G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3619G>A MANE Select	NP_002684.1:p.Glu1207Lys
ENST00000268124.11:c.3619G>A MANE Select	ENSP00000268124.5:p.Glu1207Lys
NM_001126131.1:c.3619G>A	NP_001119603.1:p.Glu1207Lys
NM_001126131.2:c.3619G>A	NP_001119603.1:p.Glu1207Lys
NM_002693.2:c.3619G>A	NP_002684.1:p.Glu1207Lys
ENST00000268124.9:c.3619G>A	ENSP00000268124.5:p.Glu1207Lys
ENST00000442287.6:c.3619G>A	ENSP00000399851.2:p.Glu1207Lys
ENST00000526671.1:n.429G>A
ENST00000530292.2:c.802G>A	ENSP00000432885.1:n.802G>A
ENST00000530292.3:c.3319G>A	ENSP00000432885.2:n.3319G>A
ENST00000631044.2:c.*3043G>A	ENSP00000486730.1:n.*3043G>A
ENST00000635986.2:c.*689G>A	ENSP00000490653.2:n.*689G>A
ENST00000636774.1:c.*2223G>A	ENSP00000489799.1:n.*2223G>A
ENST00000636937.2:c.3619G>A	ENSP00000516154.1:p.Glu1207Lys
ENST00000637238.1:c.2527G>A	ENSP00000490756.1:n.2527G>A
ENST00000637264.1:c.2631G>A
ENST00000666746.1:c.3196G>A
ENST00000672071.1:n.4821G>A
ENST00000672695.1:n.1398G>A
ENST00000672923.2:n.3619G>A