Canonical Allele Identifier: CA2194558023

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327239T= , CM000677.2:g.89327239T=	GRCh38
NC_000015.9:g.89870470T= , CM000677.1:g.89870470T=	GRCh37
NC_000015.8:g.87671474T=	NCBI36
NG_008218.1:g.12557A=
NG_008218.2:g.12557A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1361A=	ENSP00000516154.1:p.Glu454=
ENST00000268124.11:c.1361A= MANE Select	ENSP00000268124.5:p.Glu454=
ENST00000530292.3:c.962A=	ENSP00000432885.2:p.Glu321=
ENST00000635986.2:c.1361A=	ENSP00000490653.2:p.Glu454=
ENST00000636774.1:c.1361A=	ENSP00000489799.1:p.Glu454=
ENST00000637238.1:c.98A=	ENSP00000490756.1:p.Glu33=
ENST00000637264.1:c.433A=
ENST00000666746.1:c.938A=
ENST00000672071.1:n.1559A=
ENST00000672923.2:n.1464A=
ENST00000268124.9:c.1361A=	ENSP00000268124.5:p.Glu454=
ENST00000442287.6:c.1361A=	ENSP00000399851.2:p.Glu454=
ENST00000532363.2:n.219A=
ENST00000631044.2:c.*744A=	ENSP00000486730.1:n.*744A=
NM_001126131.1:c.1361A=	NP_001119603.1:p.Glu454=
NM_002693.2:c.1361A=	NP_002684.1:p.Glu454=
NM_001126131.2:c.1361A=	NP_001119603.1:p.Glu454=
NM_002693.3:c.1361A= MANE Select	NP_002684.1:p.Glu454=