Canonical Allele Identifier: CA393749807

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318623G>A , CM000677.2:g.89318623G>A	GRCh38
NC_000015.9:g.89861854G>A , CM000677.1:g.89861854G>A	GRCh37
NC_000015.8:g.87662858G>A	NCBI36
NG_008218.1:g.21173C>T
NG_011736.1:g.79661G>A , LRG_500:g.79661G>A
NG_008218.2:g.21173C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3400C>T MANE Select	NP_002684.1:p.His1134Tyr
ENST00000268124.11:c.3400C>T MANE Select	ENSP00000268124.5:p.His1134Tyr
NM_001126131.1:c.3400C>T	NP_001119603.1:p.His1134Tyr
NM_001126131.2:c.3400C>T	NP_001119603.1:p.His1134Tyr
NM_002693.2:c.3400C>T	NP_002684.1:p.His1134Tyr
ENST00000268124.9:c.3400C>T	ENSP00000268124.5:p.His1134Tyr
ENST00000442287.6:c.3400C>T	ENSP00000399851.2:p.His1134Tyr
ENST00000530292.2:c.484C>T	ENSP00000432885.1:p.His162Tyr
ENST00000530292.3:c.3001C>T	ENSP00000432885.2:p.His1001Tyr
ENST00000631044.2:c.*2824C>T	ENSP00000486730.1:n.*2824C>T
ENST00000635986.2:c.*470C>T	ENSP00000490653.2:n.*470C>T
ENST00000636774.1:c.*1967C>T	ENSP00000489799.1:n.*1967C>T
ENST00000636937.2:c.3400C>T	ENSP00000516154.1:p.His1134Tyr
ENST00000637238.1:c.2209C>T	ENSP00000490756.1:n.2209C>T
ENST00000637264.1:c.2472C>T
ENST00000666746.1:c.2977C>T
ENST00000672071.1:n.3598C>T
ENST00000672695.1:n.577C>T
ENST00000672923.2:n.3400C>T