Canonical Allele Identifier: CA492288979

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320882A>G , CM000677.2:g.89320882A>G	GRCh38
NC_000015.9:g.89864113A>G , CM000677.1:g.89864113A>G	GRCh37
NC_000015.8:g.87665117A>G	NCBI36
NG_008218.1:g.18914T>C
NG_008218.2:g.18914T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2865T>C MANE Select	NP_002684.1:p.Tyr955=
ENST00000268124.11:c.2865T>C MANE Select	ENSP00000268124.5:p.Tyr955=
NM_001126131.1:c.2865T>C	NP_001119603.1:p.Tyr955=
NM_001126131.2:c.2865T>C	NP_001119603.1:p.Tyr955=
NM_002693.2:c.2865T>C	NP_002684.1:p.Tyr955=
ENST00000268124.9:c.2865T>C	ENSP00000268124.5:p.Tyr955=
ENST00000442287.6:c.2865T>C	ENSP00000399851.2:p.Tyr955=
ENST00000528881.2:c.462T>C
ENST00000530292.3:c.2466T>C	ENSP00000432885.2:p.Tyr822=
ENST00000530715.5:c.186-13T>C	ENSP00000431395.1:n.186-13T>C
ENST00000631044.2:c.*2289T>C	ENSP00000486730.1:n.*2289T>C
ENST00000635986.2:c.2865T>C	ENSP00000490653.2:p.Tyr955=
ENST00000636774.1:c.*1432T>C	ENSP00000489799.1:n.*1432T>C
ENST00000636937.2:c.2865T>C	ENSP00000516154.1:p.Tyr955=
ENST00000637238.1:c.1674T>C	ENSP00000490756.1:n.1674T>C
ENST00000637264.1:c.1937T>C
ENST00000666746.1:c.2442T>C
ENST00000670281.1:c.800+1080T>C	ENSP00000499709.1:n.800+1080T>C
ENST00000672071.1:n.3063T>C
ENST00000672695.1:n.42T>C
ENST00000672923.2:n.2807T>C