Canonical Allele Identifier: CA393756782
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323468T>G , CM000677.2:g.89323468T>G GRCh38
NC_000015.9:g.89866699T>G , CM000677.1:g.89866699T>G GRCh37
NC_000015.8:g.87667703T>G NCBI36
NG_008218.1:g.16328A>C
NG_008218.2:g.16328A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2201A>C ENSP00000516154.1:p.His734Pro
ENST00000268124.11:c.2201A>C MANE Select ENSP00000268124.5:p.His734Pro
ENST00000530292.3:c.1802A>C ENSP00000432885.2:p.His601Pro
ENST00000635986.2:c.2201A>C ENSP00000490653.2:p.His734Pro
ENST00000636774.1:c.*768A>C ENSP00000489799.1:n.*768A>C
ENST00000637238.1:c.898A>C ENSP00000490756.1:n.898A>C
ENST00000637264.1:c.1273A>C
ENST00000666746.1:c.1778A>C
ENST00000670281.1:c.521A>C ENSP00000499709.1:p.His174Pro
ENST00000672071.1:n.2399A>C
ENST00000672923.2:n.2304A>C
ENST00000268124.9:c.2201A>C ENSP00000268124.5:p.His734Pro
ENST00000442287.6:c.2201A>C ENSP00000399851.2:p.His734Pro
ENST00000526314.2:c.539+347A>C
ENST00000526398.1:c.350A>C
ENST00000532584.5:n.403A>C
ENST00000631044.2:c.*1625A>C ENSP00000486730.1:n.*1625A>C
NM_001126131.1:c.2201A>C NP_001119603.1:p.His734Pro
NM_002693.2:c.2201A>C NP_002684.1:p.His734Pro
NM_001126131.2:c.2201A>C NP_001119603.1:p.His734Pro
NM_002693.3:c.2201A>C MANE Select NP_002684.1:p.His734Pro