Canonical Allele Identifier: CA656507392
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325408C>A , CM000677.2:g.89325408C>A GRCh38
NC_000015.9:g.89868639C>A , CM000677.1:g.89868639C>A GRCh37
NC_000015.8:g.87669643C>A NCBI36
NG_008218.1:g.14388G>T
NG_008218.2:g.14388G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1949+42G>T ENSP00000516154.1:n.1949+42G>T
ENST00000268124.11:c.1949+42G>T MANE Select ENSP00000268124.5:n.1949+42G>T
ENST00000530292.3:c.1550+42G>T ENSP00000432885.2:n.1550+42G>T
ENST00000635986.2:c.1949+42G>T ENSP00000490653.2:n.1949+42G>T
ENST00000636774.1:c.*516+42G>T ENSP00000489799.1:n.*516+42G>T
ENST00000637238.1:c.646+82G>T ENSP00000490756.1:n.646+82G>T
ENST00000637264.1:c.1021+42G>T
ENST00000666746.1:c.1526+42G>T
ENST00000670281.1:c.269+42G>T ENSP00000499709.1:n.269+42G>T
ENST00000672071.1:n.2147+42G>T
ENST00000672923.2:n.2052+42G>T
ENST00000268124.9:c.1949+42G>T ENSP00000268124.5:n.1949+42G>T
ENST00000442287.6:c.1949+42G>T ENSP00000399851.2:n.1949+42G>T
ENST00000526314.2:c.331+42G>T
ENST00000526398.1:c.138+42G>T
ENST00000526573.1:n.35+42G>T
ENST00000532584.5:n.151+42G>T
ENST00000631044.2:c.*1332+42G>T ENSP00000486730.1:n.*1332+42G>T
NM_001126131.1:c.1949+42G>T NP_001119603.1:n.1949+42G>T
NM_002693.2:c.1949+42G>T NP_002684.1:n.1949+42G>T
NM_001126131.2:c.1949+42G>T NP_001119603.1:n.1949+42G>T
NM_002693.3:c.1949+42G>T MANE Select NP_002684.1:n.1949+42G>T