Canonical Allele Identifier: CA2194548240

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321008G= , CM000677.2:g.89321008G=	GRCh38
NC_000015.9:g.89864239G= , CM000677.1:g.89864239G=	GRCh37
NC_000015.8:g.87665243G=	NCBI36
NG_008218.1:g.18788C=
NG_008218.2:g.18788C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2739C=	ENSP00000516154.1:p.Cys913=
ENST00000268124.11:c.2739C= MANE Select	ENSP00000268124.5:p.Cys913=
ENST00000530292.3:c.2340C=	ENSP00000432885.2:p.Cys780=
ENST00000635986.2:c.2739C=	ENSP00000490653.2:p.Cys913=
ENST00000636774.1:c.*1306C=	ENSP00000489799.1:n.*1306C=
ENST00000637238.1:c.1548C=	ENSP00000490756.1:n.1548C=
ENST00000637264.1:c.1811C=
ENST00000666746.1:c.2316C=
ENST00000670281.1:c.800+954C=	ENSP00000499709.1:n.800+954C=
ENST00000672071.1:n.2937C=
ENST00000672923.2:n.2681C=
ENST00000268124.9:c.2739C=	ENSP00000268124.5:p.Cys913=
ENST00000442287.6:c.2739C=	ENSP00000399851.2:p.Cys913=
ENST00000528881.2:c.336C=
ENST00000530715.5:c.186-139C=	ENSP00000431395.1:n.186-139C=
ENST00000631044.2:c.*2163C=	ENSP00000486730.1:n.*2163C=
NM_001126131.1:c.2739C=	NP_001119603.1:p.Cys913=
NM_002693.2:c.2739C=	NP_002684.1:p.Cys913=
NM_001126131.2:c.2739C=	NP_001119603.1:p.Cys913=
NM_002693.3:c.2739C= MANE Select	NP_002684.1:p.Cys913=