Canonical Allele Identifier: CA393754262
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321757C>A , CM000677.2:g.89321757C>A GRCh38
NC_000015.9:g.89864988C>A , CM000677.1:g.89864988C>A GRCh37
NC_000015.8:g.87665992C>A NCBI36
NG_008218.1:g.18039G>T
NG_008218.2:g.18039G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2577G>T ENSP00000516154.1:p.Trp859Cys
ENST00000268124.11:c.2577G>T MANE Select ENSP00000268124.5:p.Trp859Cys
ENST00000530292.3:c.2178G>T ENSP00000432885.2:p.Trp726Cys
ENST00000635986.2:c.2577G>T ENSP00000490653.2:p.Trp859Cys
ENST00000636774.1:c.*1144G>T ENSP00000489799.1:n.*1144G>T
ENST00000637238.1:c.1274G>T ENSP00000490756.1:n.1274G>T
ENST00000637264.1:c.1649G>T
ENST00000666746.1:c.2154G>T
ENST00000670281.1:c.800+205G>T ENSP00000499709.1:n.800+205G>T
ENST00000672071.1:n.2775G>T
ENST00000672923.2:n.2519G>T
ENST00000268124.9:c.2577G>T ENSP00000268124.5:p.Trp859Cys
ENST00000442287.6:c.2577G>T ENSP00000399851.2:p.Trp859Cys
ENST00000528881.2:c.196-497G>T
ENST00000530715.5:c.186-888G>T ENSP00000431395.1:n.186-888G>T
ENST00000631044.2:c.*2001G>T ENSP00000486730.1:n.*2001G>T
NM_001126131.1:c.2577G>T NP_001119603.1:p.Trp859Cys
NM_002693.2:c.2577G>T NP_002684.1:p.Trp859Cys
NM_001126131.2:c.2577G>T NP_001119603.1:p.Trp859Cys
NM_002693.3:c.2577G>T MANE Select NP_002684.1:p.Trp859Cys