Canonical Allele Identifier: CA393770304
Gene: POLG HGNC NCBI
POLGARF HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89333127T>G , CM000677.2:g.89333127T>G GRCh38
NC_000015.9:g.89876358T>G , CM000677.1:g.89876358T>G GRCh37
NC_000015.8:g.87677362T>G NCBI36
NG_008218.1:g.6669A>C
NG_008218.2:g.6669A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.628A>C (POLG) ENSP00000516154.1:p.Thr210Pro
ENST00000706918.1:c.683A>C (POLGARF) ENSP00000516626.1:p.His228Pro
ENST00000268124.11:c.628A>C (POLG) MANE Select ENSP00000268124.5:p.Thr210Pro
ENST00000530292.3:c.229A>C (POLG) ENSP00000432885.2:p.Thr77Pro
ENST00000635986.2:c.628A>C (POLG) ENSP00000490653.2:p.Thr210Pro
ENST00000636774.1:c.628A>C (POLG) ENSP00000489799.1:p.Thr210Pro
ENST00000637307.1:c.18A>C (POLG)
ENST00000650303.2:c.683A>C (POLG) ENSP00000497242.2:p.His228Pro
ENST00000666746.1:c.285A>C (POLG)
ENST00000672071.1:n.826A>C (POLG)
ENST00000268124.9:c.628A>C (POLG) ENSP00000268124.5:p.Thr210Pro
ENST00000442287.6:c.628A>C (POLG) ENSP00000399851.2:p.Thr210Pro
ENST00000631044.2:c.628A>C (POLG) ENSP00000486730.1:p.Thr210Pro
NM_001126131.1:c.628A>C (POLG) NP_001119603.1:p.Thr210Pro
NM_002693.2:c.628A>C (POLG) NP_002684.1:p.Thr210Pro
NM_001126131.2:c.628A>C (POLG) NP_001119603.1:p.Thr210Pro
NM_002693.3:c.628A>C (POLG) MANE Select NP_002684.1:p.Thr210Pro