Canonical Allele Identifier: CA7724313

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320764A>C , CM000677.2:g.89320764A>C	GRCh38
NC_000015.9:g.89863995A>C , CM000677.1:g.89863995A>C	GRCh37
NC_000015.8:g.87664999A>C	NCBI36
NG_008218.1:g.19032T>G
NG_008218.2:g.19032T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2981+2T>G MANE Select	NP_002684.1:n.2981+2T>G
ENST00000268124.11:c.2981+2T>G MANE Select	ENSP00000268124.5:n.2981+2T>G
NM_001126131.1:c.2981+2T>G	NP_001119603.1:n.2981+2T>G
NM_001126131.2:c.2981+2T>G	NP_001119603.1:n.2981+2T>G
NM_002693.2:c.2981+2T>G	NP_002684.1:n.2981+2T>G
ENST00000268124.9:c.2981+2T>G	ENSP00000268124.5:n.2981+2T>G
ENST00000442287.6:c.2981+2T>G	ENSP00000399851.2:n.2981+2T>G
ENST00000530292.2:c.65+2T>G	ENSP00000432885.1:n.65+2T>G
ENST00000530292.3:c.2582+2T>G	ENSP00000432885.2:n.2582+2T>G
ENST00000530715.5:c.289+2T>G	ENSP00000431395.1:n.289+2T>G
ENST00000631044.2:c.*2405+2T>G	ENSP00000486730.1:n.*2405+2T>G
ENST00000635986.2:c.2981+2T>G	ENSP00000490653.2:n.2981+2T>G
ENST00000636774.1:c.*1548+2T>G	ENSP00000489799.1:n.*1548+2T>G
ENST00000636812.1:c.36+2T>G
ENST00000636937.2:c.2981+2T>G	ENSP00000516154.1:n.2981+2T>G
ENST00000637238.1:c.1790+2T>G	ENSP00000490756.1:n.1790+2T>G
ENST00000637264.1:c.2053+2T>G
ENST00000666746.1:c.2558+2T>G
ENST00000670281.1:c.800+1198T>G	ENSP00000499709.1:n.800+1198T>G
ENST00000672071.1:n.3179+2T>G
ENST00000672695.1:n.158+2T>G
ENST00000672923.2:n.2923+2T>G