Canonical Allele Identifier: CA393754890

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321960A>G , CM000677.2:g.89321960A>G	GRCh38
NC_000015.9:g.89865191A>G , CM000677.1:g.89865191A>G	GRCh37
NC_000015.8:g.87666195A>G	NCBI36
NG_008218.1:g.17836T>C
NG_008218.2:g.17836T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2480+2T>C MANE Select	NP_002684.1:n.2480+2T>C
ENST00000268124.11:c.2480+2T>C MANE Select	ENSP00000268124.5:n.2480+2T>C
NM_001126131.1:c.2480+2T>C	NP_001119603.1:n.2480+2T>C
NM_001126131.2:c.2480+2T>C	NP_001119603.1:n.2480+2T>C
NM_002693.2:c.2480+2T>C	NP_002684.1:n.2480+2T>C
ENST00000268124.9:c.2480+2T>C	ENSP00000268124.5:n.2480+2T>C
ENST00000442287.6:c.2480+2T>C	ENSP00000399851.2:n.2480+2T>C
ENST00000528881.2:c.196-700T>C
ENST00000530292.3:c.2081+2T>C	ENSP00000432885.2:n.2081+2T>C
ENST00000530715.5:c.185+782T>C	ENSP00000431395.1:n.185+782T>C
ENST00000532584.5:n.523T>C
ENST00000631044.2:c.*1904+2T>C	ENSP00000486730.1:n.*1904+2T>C
ENST00000635986.2:c.2480+2T>C	ENSP00000490653.2:n.2480+2T>C
ENST00000636774.1:c.*1047+2T>C	ENSP00000489799.1:n.*1047+2T>C
ENST00000636937.2:c.2480+2T>C	ENSP00000516154.1:n.2480+2T>C
ENST00000637238.1:c.1177+2T>C	ENSP00000490756.1:n.1177+2T>C
ENST00000637264.1:c.1552+2T>C
ENST00000666746.1:c.2057+2T>C
ENST00000670281.1:c.800+2T>C	ENSP00000499709.1:n.800+2T>C
ENST00000672071.1:n.2678+2T>C
ENST00000672923.2:n.2422+2T>C