Canonical Allele Identifier: CA2194555257

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323429C= , CM000677.2:g.89323429C=	GRCh38
NC_000015.9:g.89866660C= , CM000677.1:g.89866660C=	GRCh37
NC_000015.8:g.87667664C=	NCBI36
NG_008218.1:g.16367G=
NG_008218.2:g.16367G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2240G=	ENSP00000516154.1:p.Cys747=
ENST00000268124.11:c.2240G= MANE Select	ENSP00000268124.5:p.Cys747=
ENST00000530292.3:c.1841G=	ENSP00000432885.2:p.Cys614=
ENST00000635986.2:c.2240G=	ENSP00000490653.2:p.Cys747=
ENST00000636774.1:c.*807G=	ENSP00000489799.1:n.*807G=
ENST00000637238.1:c.937G=	ENSP00000490756.1:n.937G=
ENST00000637264.1:c.1312G=
ENST00000666746.1:c.1817G=
ENST00000670281.1:c.560G=	ENSP00000499709.1:p.Cys187=
ENST00000672071.1:n.2438G=
ENST00000672923.2:n.2343G=
ENST00000268124.9:c.2240G=	ENSP00000268124.5:p.Cys747=
ENST00000442287.6:c.2240G=	ENSP00000399851.2:p.Cys747=
ENST00000526314.2:c.539+386G=
ENST00000526398.1:c.389G=
ENST00000528881.2:c.9G=
ENST00000532584.5:n.442G=
ENST00000631044.2:c.*1664G=	ENSP00000486730.1:n.*1664G=
NM_001126131.1:c.2240G=	NP_001119603.1:p.Cys747=
NM_002693.2:c.2240G=	NP_002684.1:p.Cys747=
NM_001126131.2:c.2240G=	NP_001119603.1:p.Cys747=
NM_002693.3:c.2240G= MANE Select	NP_002684.1:p.Cys747=