Canonical Allele Identifier: CA2194550114

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325525G= , CM000677.2:g.89325525G=	GRCh38
NC_000015.9:g.89868756G= , CM000677.1:g.89868756G=	GRCh37
NC_000015.8:g.87669760G=	NCBI36
NG_008218.1:g.14271C=
NG_008218.2:g.14271C=

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1874C= MANE Select	NP_002684.1:p.Pro625=
ENST00000268124.11:c.1874C= MANE Select	ENSP00000268124.5:p.Pro625=
NM_001126131.1:c.1874C=	NP_001119603.1:p.Pro625=
NM_001126131.2:c.1874C=	NP_001119603.1:p.Pro625=
NM_002693.2:c.1874C=	NP_002684.1:p.Pro625=
ENST00000268124.9:c.1874C=	ENSP00000268124.5:p.Pro625=
ENST00000442287.6:c.1874C=	ENSP00000399851.2:p.Pro625=
ENST00000526314.2:c.256C=
ENST00000526398.1:c.63C=
ENST00000530292.3:c.1475C=	ENSP00000432885.2:p.Pro492=
ENST00000532584.5:n.76C=
ENST00000631044.2:c.*1257C=	ENSP00000486730.1:n.*1257C=
ENST00000635986.2:c.1874C=	ENSP00000490653.2:p.Pro625=
ENST00000636774.1:c.*441C=	ENSP00000489799.1:n.*441C=
ENST00000636937.2:c.1874C=	ENSP00000516154.1:p.Pro625=
ENST00000637238.1:c.611C=	ENSP00000490756.1:p.Pro204=
ENST00000637264.1:c.946C=
ENST00000666746.1:c.1451C=
ENST00000670281.1:c.194C=	ENSP00000499709.1:p.Pro65=
ENST00000672071.1:n.2072C=
ENST00000672923.2:n.1977C=