Canonical Allele Identifier: CA492289035

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319065G>T , CM000677.2:g.89319065G>T	GRCh38
NC_000015.9:g.89862296G>T , CM000677.1:g.89862296G>T	GRCh37
NC_000015.8:g.87663300G>T	NCBI36
NG_008218.1:g.20731C>A
NG_011736.1:g.80103G>T , LRG_500:g.80103G>T
NG_008218.2:g.20731C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3139C>A	ENSP00000516154.1:p.Arg1047=
ENST00000268124.11:c.3139C>A MANE Select	ENSP00000268124.5:p.Arg1047=
ENST00000530292.3:c.2740C>A	ENSP00000432885.2:p.Arg914=
ENST00000635986.2:c.*209C>A	ENSP00000490653.2:n.*209C>A
ENST00000636530.1:n.99C>A
ENST00000636774.1:c.*1706C>A	ENSP00000489799.1:n.*1706C>A
ENST00000637238.1:c.1948C>A	ENSP00000490756.1:n.1948C>A
ENST00000637264.1:c.2211C>A
ENST00000666746.1:c.2716C>A
ENST00000672071.1:n.3337C>A
ENST00000672695.1:n.316C>A
ENST00000672923.2:n.3139C>A
ENST00000268124.9:c.3139C>A	ENSP00000268124.5:p.Arg1047=
ENST00000442287.6:c.3139C>A	ENSP00000399851.2:p.Arg1047=
ENST00000530292.2:c.223C>A	ENSP00000432885.1:p.Arg75=
ENST00000631044.2:c.*2563C>A	ENSP00000486730.1:n.*2563C>A
NM_001126131.1:c.3139C>A	NP_001119603.1:p.Arg1047=
NM_002693.2:c.3139C>A	NP_002684.1:p.Arg1047=
NM_001126131.2:c.3139C>A	NP_001119603.1:p.Arg1047=
NM_002693.3:c.3139C>A MANE Select	NP_002684.1:p.Arg1047=