Canonical Allele Identifier: CA492289744
Gene: POLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89870532G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327301G>T , CM000677.2:g.89327301G>T GRCh38
NC_000015.9:g.89870532G>T , CM000677.1:g.89870532G>T GRCh37
NC_000015.8:g.87671536G>T NCBI36
NG_008218.1:g.12495C>A
NG_008218.2:g.12495C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.1299C>A ENSP00000516154.1:p.Ser433=
ENST00000268124.11:c.1299C>A MANE Select ENSP00000268124.5:p.Ser433=
ENST00000530292.3:c.900C>A ENSP00000432885.2:p.Ser300=
ENST00000635986.2:c.1299C>A ENSP00000490653.2:p.Ser433=
ENST00000636774.1:c.1299C>A ENSP00000489799.1:p.Ser433=
ENST00000637238.1:c.36C>A ENSP00000490756.1:p.Ser12=
ENST00000637264.1:c.371C>A
ENST00000666746.1:c.876C>A
ENST00000672071.1:n.1497C>A
ENST00000672923.2:n.1402C>A
ENST00000268124.9:c.1299C>A ENSP00000268124.5:p.Ser433=
ENST00000442287.6:c.1299C>A ENSP00000399851.2:p.Ser433=
ENST00000532363.2:n.157C>A
ENST00000631044.2:c.*682C>A ENSP00000486730.1:n.*682C>A
NM_001126131.1:c.1299C>A NP_001119603.1:p.Ser433=
NM_002693.2:c.1299C>A NP_002684.1:p.Ser433=
NM_001126131.2:c.1299C>A NP_001119603.1:p.Ser433=
NM_002693.3:c.1299C>A MANE Select NP_002684.1:p.Ser433=