Canonical Allele Identifier: CA2194549802

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325460A= , CM000677.2:g.89325460A=	GRCh38
NC_000015.9:g.89868691A= , CM000677.1:g.89868691A=	GRCh37
NC_000015.8:g.87669695A=	NCBI36
NG_008218.1:g.14336T=
NG_008218.2:g.14336T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1939T=	ENSP00000516154.1:p.Cys647=
ENST00000268124.11:c.1939T= MANE Select	ENSP00000268124.5:p.Cys647=
ENST00000530292.3:c.1540T=	ENSP00000432885.2:p.Cys514=
ENST00000635986.2:c.1939T=	ENSP00000490653.2:p.Cys647=
ENST00000636774.1:c.*506T=	ENSP00000489799.1:n.*506T=
ENST00000637238.1:c.646+30T=	ENSP00000490756.1:n.646+30T=
ENST00000637264.1:c.1011T=
ENST00000666746.1:c.1516T=
ENST00000670281.1:c.259T=	ENSP00000499709.1:p.Cys87=
ENST00000672071.1:n.2137T=
ENST00000672923.2:n.2042T=
ENST00000268124.9:c.1939T=	ENSP00000268124.5:p.Cys647=
ENST00000442287.6:c.1939T=	ENSP00000399851.2:p.Cys647=
ENST00000526314.2:c.321T=
ENST00000526398.1:c.128T=
ENST00000526573.1:n.25T=
ENST00000532584.5:n.141T=
ENST00000631044.2:c.*1322T=	ENSP00000486730.1:n.*1322T=
NM_001126131.1:c.1939T=	NP_001119603.1:p.Cys647=
NM_002693.2:c.1939T=	NP_002684.1:p.Cys647=
NM_001126131.2:c.1939T=	NP_001119603.1:p.Cys647=
NM_002693.3:c.1939T= MANE Select	NP_002684.1:p.Cys647=