Canonical Allele Identifier: CA393756624
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323405T>A , CM000677.2:g.89323405T>A GRCh38
NC_000015.9:g.89866636T>A , CM000677.1:g.89866636T>A GRCh37
NC_000015.8:g.87667640T>A NCBI36
NG_008218.1:g.16391A>T
NG_008218.2:g.16391A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2264A>T ENSP00000516154.1:p.Lys755Met
ENST00000268124.11:c.2264A>T MANE Select ENSP00000268124.5:p.Lys755Met
ENST00000530292.3:c.1865A>T ENSP00000432885.2:p.Lys622Met
ENST00000635986.2:c.2264A>T ENSP00000490653.2:p.Lys755Met
ENST00000636774.1:c.*831A>T ENSP00000489799.1:n.*831A>T
ENST00000637238.1:c.961A>T ENSP00000490756.1:n.961A>T
ENST00000637264.1:c.1336A>T
ENST00000666746.1:c.1841A>T
ENST00000670281.1:c.584A>T ENSP00000499709.1:p.Lys195Met
ENST00000672071.1:n.2462A>T
ENST00000672923.2:n.2367A>T
ENST00000268124.9:c.2264A>T ENSP00000268124.5:p.Lys755Met
ENST00000442287.6:c.2264A>T ENSP00000399851.2:p.Lys755Met
ENST00000526314.2:c.539+410A>T
ENST00000526398.1:c.413A>T
ENST00000528881.2:c.33A>T
ENST00000530715.5:c.23A>T ENSP00000431395.1:p.Lys8Met
ENST00000532584.5:n.466A>T
ENST00000631044.2:c.*1688A>T ENSP00000486730.1:n.*1688A>T
NM_001126131.1:c.2264A>T NP_001119603.1:p.Lys755Met
NM_002693.2:c.2264A>T NP_002684.1:p.Lys755Met
NM_001126131.2:c.2264A>T NP_001119603.1:p.Lys755Met
NM_002693.3:c.2264A>T MANE Select NP_002684.1:p.Lys755Met