Canonical Allele Identifier: CA492074840
Gene: POLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89865075G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321844G>A , CM000677.2:g.89321844G>A GRCh38
NC_000015.9:g.89865075G>A , CM000677.1:g.89865075G>A GRCh37
NC_000015.8:g.87666079G>A NCBI36
NG_008218.1:g.17952C>T
NG_008218.2:g.17952C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2490C>T ENSP00000516154.1:p.Asp830=
ENST00000268124.11:c.2490C>T MANE Select ENSP00000268124.5:p.Asp830=
ENST00000530292.3:c.2091C>T ENSP00000432885.2:p.Asp697=
ENST00000635986.2:c.2490C>T ENSP00000490653.2:p.Asp830=
ENST00000636774.1:c.*1057C>T ENSP00000489799.1:n.*1057C>T
ENST00000637238.1:c.1187C>T ENSP00000490756.1:n.1187C>T
ENST00000637264.1:c.1562C>T
ENST00000666746.1:c.2067C>T
ENST00000670281.1:c.800+118C>T ENSP00000499709.1:n.800+118C>T
ENST00000672071.1:n.2688C>T
ENST00000672923.2:n.2432C>T
ENST00000268124.9:c.2490C>T ENSP00000268124.5:p.Asp830=
ENST00000442287.6:c.2490C>T ENSP00000399851.2:p.Asp830=
ENST00000528881.2:c.196-584C>T
ENST00000530715.5:c.185+898C>T ENSP00000431395.1:n.185+898C>T
ENST00000532584.5:n.639C>T
ENST00000631044.2:c.*1914C>T ENSP00000486730.1:n.*1914C>T
NM_001126131.1:c.2490C>T NP_001119603.1:p.Asp830=
NM_002693.2:c.2490C>T NP_002684.1:p.Asp830=
NM_001126131.2:c.2490C>T NP_001119603.1:p.Asp830=
NM_002693.3:c.2490C>T MANE Select NP_002684.1:p.Asp830=