Canonical Allele Identifier: CA2194558454

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327347C= , CM000677.2:g.89327347C=	GRCh38
NC_000015.9:g.89870578C= , CM000677.1:g.89870578C=	GRCh37
NC_000015.8:g.87671582C=	NCBI36
NG_008218.1:g.12449G=
NG_008218.2:g.12449G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1253G=	ENSP00000516154.1:p.Cys418=
ENST00000268124.11:c.1253G= MANE Select	ENSP00000268124.5:p.Cys418=
ENST00000530292.3:c.854G=	ENSP00000432885.2:p.Cys285=
ENST00000635986.2:c.1253G=	ENSP00000490653.2:p.Cys418=
ENST00000636774.1:c.1253G=	ENSP00000489799.1:p.Cys418=
ENST00000637264.1:c.325G=
ENST00000666746.1:c.830G=
ENST00000672071.1:n.1451G=
ENST00000672923.2:n.1356G=
ENST00000268124.9:c.1253G=	ENSP00000268124.5:p.Cys418=
ENST00000442287.6:c.1253G=	ENSP00000399851.2:p.Cys418=
ENST00000532363.2:n.111G=
ENST00000631044.2:c.*636G=	ENSP00000486730.1:n.*636G=
NM_001126131.1:c.1253G=	NP_001119603.1:p.Cys418=
NM_002693.2:c.1253G=	NP_002684.1:p.Cys418=
NM_001126131.2:c.1253G=	NP_001119603.1:p.Cys418=
NM_002693.3:c.1253G= MANE Select	NP_002684.1:p.Cys418=