Canonical Allele Identifier: CA393749802

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318621A>C , CM000677.2:g.89318621A>C	GRCh38
NC_000015.9:g.89861852A>C , CM000677.1:g.89861852A>C	GRCh37
NC_000015.8:g.87662856A>C	NCBI36
NG_008218.1:g.21175T>G
NG_011736.1:g.79659A>C , LRG_500:g.79659A>C
NG_008218.2:g.21175T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3402T>G MANE Select	NP_002684.1:p.His1134Gln
ENST00000268124.11:c.3402T>G MANE Select	ENSP00000268124.5:p.His1134Gln
NM_001126131.1:c.3402T>G	NP_001119603.1:p.His1134Gln
NM_001126131.2:c.3402T>G	NP_001119603.1:p.His1134Gln
NM_002693.2:c.3402T>G	NP_002684.1:p.His1134Gln
ENST00000268124.9:c.3402T>G	ENSP00000268124.5:p.His1134Gln
ENST00000442287.6:c.3402T>G	ENSP00000399851.2:p.His1134Gln
ENST00000530292.2:c.486T>G	ENSP00000432885.1:p.His162Gln
ENST00000530292.3:c.3003T>G	ENSP00000432885.2:p.His1001Gln
ENST00000631044.2:c.*2826T>G	ENSP00000486730.1:n.*2826T>G
ENST00000635986.2:c.*472T>G	ENSP00000490653.2:n.*472T>G
ENST00000636774.1:c.*1969T>G	ENSP00000489799.1:n.*1969T>G
ENST00000636937.2:c.3402T>G	ENSP00000516154.1:p.His1134Gln
ENST00000637238.1:c.2211T>G	ENSP00000490756.1:n.2211T>G
ENST00000637264.1:c.2474T>G
ENST00000666746.1:c.2979T>G
ENST00000672071.1:n.3600T>G
ENST00000672695.1:n.579T>G
ENST00000672923.2:n.3402T>G