Canonical Allele Identifier: CA393759299
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325579C>T , CM000677.2:g.89325579C>T GRCh38
NC_000015.9:g.89868810C>T , CM000677.1:g.89868810C>T GRCh37
NC_000015.8:g.87669814C>T NCBI36
NG_008218.1:g.14217G>A
NG_008218.2:g.14217G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1820G>A ENSP00000516154.1:p.Trp607Ter
ENST00000268124.11:c.1820G>A MANE Select ENSP00000268124.5:p.Trp607Ter
ENST00000530292.3:c.1421G>A ENSP00000432885.2:p.Trp474Ter
ENST00000635986.2:c.1820G>A ENSP00000490653.2:p.Trp607Ter
ENST00000636774.1:c.*387G>A ENSP00000489799.1:n.*387G>A
ENST00000637238.1:c.557G>A ENSP00000490756.1:p.Trp186Ter
ENST00000637264.1:c.892G>A
ENST00000666746.1:c.1397G>A
ENST00000670281.1:c.140G>A ENSP00000499709.1:p.Trp47Ter
ENST00000672071.1:n.2018G>A
ENST00000672923.2:n.1923G>A
ENST00000268124.9:c.1820G>A ENSP00000268124.5:p.Trp607Ter
ENST00000442287.6:c.1820G>A ENSP00000399851.2:p.Trp607Ter
ENST00000526314.2:c.202G>A
ENST00000526398.1:c.9G>A
ENST00000532584.5:n.22G>A
ENST00000631044.2:c.*1203G>A ENSP00000486730.1:n.*1203G>A
NM_001126131.1:c.1820G>A NP_001119603.1:p.Trp607Ter
NM_002693.2:c.1820G>A NP_002684.1:p.Trp607Ter
NM_001126131.2:c.1820G>A NP_001119603.1:p.Trp607Ter
NM_002693.3:c.1820G>A MANE Select NP_002684.1:p.Trp607Ter