Canonical Allele Identifier: CA492072461

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319338C>A , CM000677.2:g.89319338C>A	GRCh38
NC_000015.9:g.89862569C>A , CM000677.1:g.89862569C>A	GRCh37
NC_000015.8:g.87663573C>A	NCBI36
NG_008218.1:g.20458G>T
NG_008218.2:g.20458G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2994G>T	ENSP00000516154.1:p.Ser998=
ENST00000268124.11:c.2994G>T MANE Select	ENSP00000268124.5:p.Ser998=
ENST00000530292.3:c.2595G>T	ENSP00000432885.2:p.Ser865=
ENST00000635986.2:c.*64G>T	ENSP00000490653.2:n.*64G>T
ENST00000636530.1:n.29+13G>T
ENST00000636774.1:c.*1561G>T	ENSP00000489799.1:n.*1561G>T
ENST00000636812.1:c.100G>T
ENST00000637238.1:c.1803G>T	ENSP00000490756.1:n.1803G>T
ENST00000637264.1:c.2066G>T
ENST00000666746.1:c.2571G>T
ENST00000670281.1:c.813G>T	ENSP00000499709.1:p.Ser271=
ENST00000672071.1:n.3192G>T
ENST00000672695.1:n.171G>T
ENST00000672923.2:n.2994G>T
ENST00000268124.9:c.2994G>T	ENSP00000268124.5:p.Ser998=
ENST00000442287.6:c.2994G>T	ENSP00000399851.2:p.Ser998=
ENST00000530292.2:c.78G>T	ENSP00000432885.1:p.Ser26=
ENST00000530715.5:c.302G>T	ENSP00000431395.1:n.302G>T
ENST00000631044.2:c.*2418G>T	ENSP00000486730.1:n.*2418G>T
NM_001126131.1:c.2994G>T	NP_001119603.1:p.Ser998=
NM_002693.2:c.2994G>T	NP_002684.1:p.Ser998=
NM_001126131.2:c.2994G>T	NP_001119603.1:p.Ser998=
NM_002693.3:c.2994G>T MANE Select	NP_002684.1:p.Ser998=