Canonical Allele Identifier: CA393766882
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89330152G>T , CM000677.2:g.89330152G>T GRCh38
NC_000015.9:g.89873383G>T , CM000677.1:g.89873383G>T GRCh37
NC_000015.8:g.87674387G>T NCBI36
NG_008218.1:g.9644C>A
NG_008218.2:g.9644C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.784C>A ENSP00000516154.1:p.Gln262Lys
ENST00000268124.11:c.784C>A MANE Select ENSP00000268124.5:p.Gln262Lys
ENST00000530292.3:c.385C>A ENSP00000432885.2:p.Gln129Lys
ENST00000635986.2:c.784C>A ENSP00000490653.2:p.Gln262Lys
ENST00000636774.1:c.784C>A ENSP00000489799.1:p.Gln262Lys
ENST00000666746.1:c.441C>A
ENST00000672071.1:n.982C>A
ENST00000268124.9:c.784C>A ENSP00000268124.5:p.Gln262Lys
ENST00000442287.6:c.784C>A ENSP00000399851.2:p.Gln262Lys
ENST00000631044.2:c.*167C>A ENSP00000486730.1:n.*167C>A
NM_001126131.1:c.784C>A NP_001119603.1:p.Gln262Lys
NM_002693.2:c.784C>A NP_002684.1:p.Gln262Lys
NM_001126131.2:c.784C>A NP_001119603.1:p.Gln262Lys
NM_002693.3:c.784C>A MANE Select NP_002684.1:p.Gln262Lys