Canonical Allele Identifier: CA2194555252
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323426C= , CM000677.2:g.89323426C= GRCh38
NC_000015.9:g.89866657C= , CM000677.1:g.89866657C= GRCh37
NC_000015.8:g.87667661C= NCBI36
NG_008218.1:g.16370G=
NG_008218.2:g.16370G=

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.2243G= ENSP00000516154.1:p.Trp748=
ENST00000268124.11:c.2243G= MANE Select ENSP00000268124.5:p.Trp748=
ENST00000530292.3:c.1844G= ENSP00000432885.2:p.Trp615=
ENST00000635986.2:c.2243G= ENSP00000490653.2:p.Trp748=
ENST00000636774.1:c.*810G= ENSP00000489799.1:n.*810G=
ENST00000637238.1:c.940G= ENSP00000490756.1:n.940G=
ENST00000637264.1:c.1315G=
ENST00000666746.1:c.1820G=
ENST00000670281.1:c.563G= ENSP00000499709.1:p.Trp188=
ENST00000672071.1:n.2441G=
ENST00000672923.2:n.2346G=
ENST00000268124.9:c.2243G= ENSP00000268124.5:p.Trp748=
ENST00000442287.6:c.2243G= ENSP00000399851.2:p.Trp748=
ENST00000526314.2:c.539+389G=
ENST00000526398.1:c.392G=
ENST00000528881.2:c.12G=
ENST00000530715.5:c.2G= ENSP00000431395.1:p.Trp1=
ENST00000532584.5:n.445G=
ENST00000631044.2:c.*1667G= ENSP00000486730.1:n.*1667G=
NM_001126131.1:c.2243G= NP_001119603.1:p.Trp748=
NM_002693.2:c.2243G= NP_002684.1:p.Trp748=
NM_001126131.2:c.2243G= NP_001119603.1:p.Trp748=
NM_002693.3:c.2243G= MANE Select NP_002684.1:p.Trp748=