Canonical Allele Identifier: CA393762023

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327238C>G , CM000677.2:g.89327238C>G	GRCh38
NC_000015.9:g.89870469C>G , CM000677.1:g.89870469C>G	GRCh37
NC_000015.8:g.87671473C>G	NCBI36
NG_008218.1:g.12558G>C
NG_008218.2:g.12558G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1362G>C MANE Select	NP_002684.1:p.Glu454Asp
ENST00000268124.11:c.1362G>C MANE Select	ENSP00000268124.5:p.Glu454Asp
NM_001126131.1:c.1362G>C	NP_001119603.1:p.Glu454Asp
NM_001126131.2:c.1362G>C	NP_001119603.1:p.Glu454Asp
NM_002693.2:c.1362G>C	NP_002684.1:p.Glu454Asp
ENST00000268124.9:c.1362G>C	ENSP00000268124.5:p.Glu454Asp
ENST00000442287.6:c.1362G>C	ENSP00000399851.2:p.Glu454Asp
ENST00000530292.3:c.963G>C	ENSP00000432885.2:p.Glu321Asp
ENST00000532363.2:n.220G>C
ENST00000631044.2:c.*745G>C	ENSP00000486730.1:n.*745G>C
ENST00000635986.2:c.1362G>C	ENSP00000490653.2:p.Glu454Asp
ENST00000636774.1:c.1362G>C	ENSP00000489799.1:p.Glu454Asp
ENST00000636937.2:c.1362G>C	ENSP00000516154.1:p.Glu454Asp
ENST00000637238.1:c.99G>C	ENSP00000490756.1:p.Glu33Asp
ENST00000637264.1:c.434G>C
ENST00000666746.1:c.939G>C
ENST00000672071.1:n.1560G>C
ENST00000672923.2:n.1465G>C