Canonical Allele Identifier: CA393766952
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89330167T>G , CM000677.2:g.89330167T>G GRCh38
NC_000015.9:g.89873398T>G , CM000677.1:g.89873398T>G GRCh37
NC_000015.8:g.87674402T>G NCBI36
NG_008218.1:g.9629A>C
NG_008218.2:g.9629A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.769A>C ENSP00000516154.1:p.Thr257Pro
ENST00000268124.11:c.769A>C MANE Select ENSP00000268124.5:p.Thr257Pro
ENST00000530292.3:c.370A>C ENSP00000432885.2:p.Thr124Pro
ENST00000635986.2:c.769A>C ENSP00000490653.2:p.Thr257Pro
ENST00000636774.1:c.769A>C ENSP00000489799.1:p.Thr257Pro
ENST00000666746.1:c.426A>C
ENST00000672071.1:n.967A>C
ENST00000268124.9:c.769A>C ENSP00000268124.5:p.Thr257Pro
ENST00000442287.6:c.769A>C ENSP00000399851.2:p.Thr257Pro
ENST00000631044.2:c.*152A>C ENSP00000486730.1:n.*152A>C
NM_001126131.1:c.769A>C NP_001119603.1:p.Thr257Pro
NM_002693.2:c.769A>C NP_002684.1:p.Thr257Pro
NM_001126131.2:c.769A>C NP_001119603.1:p.Thr257Pro
NM_002693.3:c.769A>C MANE Select NP_002684.1:p.Thr257Pro