Canonical Allele Identifier: CA2194549864

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325483G= , CM000677.2:g.89325483G=	GRCh38
NC_000015.9:g.89868714G= , CM000677.1:g.89868714G=	GRCh37
NC_000015.8:g.87669718G=	NCBI36
NG_008218.1:g.14313C=
NG_008218.2:g.14313C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1916C=	ENSP00000516154.1:p.Thr639=
ENST00000268124.11:c.1916C= MANE Select	ENSP00000268124.5:p.Thr639=
ENST00000530292.3:c.1517C=	ENSP00000432885.2:p.Thr506=
ENST00000635986.2:c.1916C=	ENSP00000490653.2:p.Thr639=
ENST00000636774.1:c.*483C=	ENSP00000489799.1:n.*483C=
ENST00000637238.1:c.646+7C=	ENSP00000490756.1:n.646+7C=
ENST00000637264.1:c.988C=
ENST00000666746.1:c.1493C=
ENST00000670281.1:c.236C=	ENSP00000499709.1:p.Thr79=
ENST00000672071.1:n.2114C=
ENST00000672923.2:n.2019C=
ENST00000268124.9:c.1916C=	ENSP00000268124.5:p.Thr639=
ENST00000442287.6:c.1916C=	ENSP00000399851.2:p.Thr639=
ENST00000526314.2:c.298C=
ENST00000526398.1:c.105C=
ENST00000526573.1:n.2C=
ENST00000532584.5:n.118C=
ENST00000631044.2:c.*1299C=	ENSP00000486730.1:n.*1299C=
NM_001126131.1:c.1916C=	NP_001119603.1:p.Thr639=
NM_002693.2:c.1916C=	NP_002684.1:p.Thr639=
NM_001126131.2:c.1916C=	NP_001119603.1:p.Thr639=
NM_002693.3:c.1916C= MANE Select	NP_002684.1:p.Thr639=