Canonical Allele Identifier: CA10602242

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320920G>A , CM000677.2:g.89320920G>A	GRCh38
NC_000015.9:g.89864151G>A , CM000677.1:g.89864151G>A	GRCh37
NC_000015.8:g.87665155G>A	NCBI36
NG_008218.1:g.18876C>T
NG_008218.2:g.18876C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2827C>T MANE Select	NP_002684.1:p.Arg943Cys
ENST00000268124.11:c.2827C>T MANE Select	ENSP00000268124.5:p.Arg943Cys
NM_001126131.1:c.2827C>T	NP_001119603.1:p.Arg943Cys
NM_001126131.2:c.2827C>T	NP_001119603.1:p.Arg943Cys
NM_002693.2:c.2827C>T	NP_002684.1:p.Arg943Cys
ENST00000268124.9:c.2827C>T	ENSP00000268124.5:p.Arg943Cys
ENST00000442287.6:c.2827C>T	ENSP00000399851.2:p.Arg943Cys
ENST00000528881.2:c.424C>T
ENST00000530292.3:c.2428C>T	ENSP00000432885.2:p.Arg810Cys
ENST00000530715.5:c.186-51C>T	ENSP00000431395.1:n.186-51C>T
ENST00000631044.2:c.*2251C>T	ENSP00000486730.1:n.*2251C>T
ENST00000635986.2:c.2827C>T	ENSP00000490653.2:p.Arg943Cys
ENST00000636774.1:c.*1394C>T	ENSP00000489799.1:n.*1394C>T
ENST00000636937.2:c.2827C>T	ENSP00000516154.1:p.Arg943Cys
ENST00000637238.1:c.1636C>T	ENSP00000490756.1:n.1636C>T
ENST00000637264.1:c.1899C>T
ENST00000666746.1:c.2404C>T
ENST00000670281.1:c.800+1042C>T	ENSP00000499709.1:n.800+1042C>T
ENST00000672071.1:n.3025C>T
ENST00000672695.1:n.4C>T
ENST00000672923.2:n.2769C>T