Canonical Allele Identifier: CA2194549953

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325499G= , CM000677.2:g.89325499G=	GRCh38
NC_000015.9:g.89868730G= , CM000677.1:g.89868730G=	GRCh37
NC_000015.8:g.87669734G=	NCBI36
NG_008218.1:g.14297C=
NG_008218.2:g.14297C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1900C=	ENSP00000516154.1:p.Leu634=
ENST00000268124.11:c.1900C= MANE Select	ENSP00000268124.5:p.Leu634=
ENST00000530292.3:c.1501C=	ENSP00000432885.2:p.Leu501=
ENST00000635986.2:c.1900C=	ENSP00000490653.2:p.Leu634=
ENST00000636774.1:c.*467C=	ENSP00000489799.1:n.*467C=
ENST00000637238.1:c.637C=	ENSP00000490756.1:p.Leu213=
ENST00000637264.1:c.972C=
ENST00000666746.1:c.1477C=
ENST00000670281.1:c.220C=	ENSP00000499709.1:p.Leu74=
ENST00000672071.1:n.2098C=
ENST00000672923.2:n.2003C=
ENST00000268124.9:c.1900C=	ENSP00000268124.5:p.Leu634=
ENST00000442287.6:c.1900C=	ENSP00000399851.2:p.Leu634=
ENST00000526314.2:c.282C=
ENST00000526398.1:c.89C=
ENST00000532584.5:n.102C=
ENST00000631044.2:c.*1283C=	ENSP00000486730.1:n.*1283C=
NM_001126131.1:c.1900C=	NP_001119603.1:p.Leu634=
NM_002693.2:c.1900C=	NP_002684.1:p.Leu634=
NM_001126131.2:c.1900C=	NP_001119603.1:p.Leu634=
NM_002693.3:c.1900C= MANE Select	NP_002684.1:p.Leu634=