Canonical Allele Identifier: CA2838267718

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320723C>A , CM000677.2:g.89320723C>A	GRCh38
NC_000015.9:g.89863954C>A , CM000677.1:g.89863954C>A	GRCh37
NC_000015.8:g.87664958C>A	NCBI36
NG_008218.1:g.19073G>T
NG_008218.2:g.19073G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2981+43G>T	ENSP00000516154.1:n.2981+43G>T
ENST00000268124.11:c.2981+43G>T MANE Select	ENSP00000268124.5:n.2981+43G>T
ENST00000530292.3:c.2582+43G>T	ENSP00000432885.2:n.2582+43G>T
ENST00000635986.2:c.2981+43G>T	ENSP00000490653.2:n.2981+43G>T
ENST00000636774.1:c.*1548+43G>T	ENSP00000489799.1:n.*1548+43G>T
ENST00000636812.1:c.36+43G>T
ENST00000637238.1:c.1790+43G>T	ENSP00000490756.1:n.1790+43G>T
ENST00000637264.1:c.2053+43G>T
ENST00000666746.1:c.2558+43G>T
ENST00000670281.1:c.800+1239G>T	ENSP00000499709.1:n.800+1239G>T
ENST00000672071.1:n.3179+43G>T
ENST00000672695.1:n.158+43G>T
ENST00000672923.2:n.2923+43G>T
ENST00000268124.9:c.2981+43G>T	ENSP00000268124.5:n.2981+43G>T
ENST00000442287.6:c.2981+43G>T	ENSP00000399851.2:n.2981+43G>T
ENST00000530292.2:c.65+43G>T	ENSP00000432885.1:n.65+43G>T
ENST00000530715.5:c.289+43G>T	ENSP00000431395.1:n.289+43G>T
ENST00000631044.2:c.*2405+43G>T	ENSP00000486730.1:n.*2405+43G>T
NM_001126131.1:c.2981+43G>T	NP_001119603.1:n.2981+43G>T
NM_002693.2:c.2981+43G>T	NP_002684.1:n.2981+43G>T
NM_001126131.2:c.2981+43G>T	NP_001119603.1:n.2981+43G>T
NM_002693.3:c.2981+43G>T MANE Select	NP_002684.1:n.2981+43G>T