Canonical Allele Identifier: CA393758973
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325468C>A , CM000677.2:g.89325468C>A GRCh38
NC_000015.9:g.89868699C>A , CM000677.1:g.89868699C>A GRCh37
NC_000015.8:g.87669703C>A NCBI36
NG_008218.1:g.14328G>T
NG_008218.2:g.14328G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1931G>T ENSP00000516154.1:p.Gly644Val
ENST00000268124.11:c.1931G>T MANE Select ENSP00000268124.5:p.Gly644Val
ENST00000530292.3:c.1532G>T ENSP00000432885.2:p.Gly511Val
ENST00000635986.2:c.1931G>T ENSP00000490653.2:p.Gly644Val
ENST00000636774.1:c.*498G>T ENSP00000489799.1:n.*498G>T
ENST00000637238.1:c.646+22G>T ENSP00000490756.1:n.646+22G>T
ENST00000637264.1:c.1003G>T
ENST00000666746.1:c.1508G>T
ENST00000670281.1:c.251G>T ENSP00000499709.1:p.Gly84Val
ENST00000672071.1:n.2129G>T
ENST00000672923.2:n.2034G>T
ENST00000268124.9:c.1931G>T ENSP00000268124.5:p.Gly644Val
ENST00000442287.6:c.1931G>T ENSP00000399851.2:p.Gly644Val
ENST00000526314.2:c.313G>T
ENST00000526398.1:c.120G>T
ENST00000526573.1:n.17G>T
ENST00000532584.5:n.133G>T
ENST00000631044.2:c.*1314G>T ENSP00000486730.1:n.*1314G>T
NM_001126131.1:c.1931G>T NP_001119603.1:p.Gly644Val
NM_002693.2:c.1931G>T NP_002684.1:p.Gly644Val
NM_001126131.2:c.1931G>T NP_001119603.1:p.Gly644Val
NM_002693.3:c.1931G>T MANE Select NP_002684.1:p.Gly644Val