Canonical Allele Identifier: CA393750550
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318972A>T , CM000677.2:g.89318972A>T GRCh38
NC_000015.9:g.89862203A>T , CM000677.1:g.89862203A>T GRCh37
NC_000015.8:g.87663207A>T NCBI36
NG_008218.1:g.20824T>A
NG_011736.1:g.80010A>T , LRG_500:g.80010A>T
NG_008218.2:g.20824T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.3232T>A ENSP00000516154.1:p.Cys1078Ser
ENST00000268124.11:c.3232T>A MANE Select ENSP00000268124.5:p.Cys1078Ser
ENST00000530292.3:c.2833T>A ENSP00000432885.2:p.Cys945Ser
ENST00000635986.2:c.*302T>A ENSP00000490653.2:n.*302T>A
ENST00000636774.1:c.*1799T>A ENSP00000489799.1:n.*1799T>A
ENST00000637238.1:c.2041T>A ENSP00000490756.1:n.2041T>A
ENST00000637264.1:c.2304T>A
ENST00000666746.1:c.2809T>A
ENST00000672071.1:n.3430T>A
ENST00000672695.1:n.409T>A
ENST00000672923.2:n.3232T>A
ENST00000268124.9:c.3232T>A ENSP00000268124.5:p.Cys1078Ser
ENST00000442287.6:c.3232T>A ENSP00000399851.2:p.Cys1078Ser
ENST00000530292.2:c.316T>A ENSP00000432885.1:p.Cys106Ser
ENST00000631044.2:c.*2656T>A ENSP00000486730.1:n.*2656T>A
NM_001126131.1:c.3232T>A NP_001119603.1:p.Cys1078Ser
NM_002693.2:c.3232T>A NP_002684.1:p.Cys1078Ser
NM_001126131.2:c.3232T>A NP_001119603.1:p.Cys1078Ser
NM_002693.3:c.3232T>A MANE Select NP_002684.1:p.Cys1078Ser