Canonical Allele Identifier: CA393760706
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89326915C>T , CM000677.2:g.89326915C>T GRCh38
NC_000015.9:g.89870146C>T , CM000677.1:g.89870146C>T GRCh37
NC_000015.8:g.87671150C>T NCBI36
NG_008218.1:g.12881G>A
NG_008218.2:g.12881G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.1582G>A ENSP00000516154.1:p.Glu528Lys
ENST00000268124.11:c.1582G>A MANE Select ENSP00000268124.5:p.Glu528Lys
ENST00000530292.3:c.1183G>A ENSP00000432885.2:p.Glu395Lys
ENST00000635986.2:c.1582G>A ENSP00000490653.2:p.Glu528Lys
ENST00000636774.1:c.*149G>A ENSP00000489799.1:n.*149G>A
ENST00000637238.1:c.319G>A ENSP00000490756.1:p.Glu107Lys
ENST00000637264.1:c.654G>A
ENST00000666746.1:c.1159G>A
ENST00000672071.1:n.1780G>A
ENST00000672923.2:n.1685G>A
ENST00000268124.9:c.1582G>A ENSP00000268124.5:p.Glu528Lys
ENST00000442287.6:c.1582G>A ENSP00000399851.2:p.Glu528Lys
ENST00000631044.2:c.*965G>A ENSP00000486730.1:n.*965G>A
NM_001126131.1:c.1582G>A NP_001119603.1:p.Glu528Lys
NM_002693.2:c.1582G>A NP_002684.1:p.Glu528Lys
NM_001126131.2:c.1582G>A NP_001119603.1:p.Glu528Lys
NM_002693.3:c.1582G>A MANE Select NP_002684.1:p.Glu528Lys