Canonical Allele Identifier: CA393749864
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318647C>T , CM000677.2:g.89318647C>T GRCh38
NC_000015.9:g.89861878C>T , CM000677.1:g.89861878C>T GRCh37
NC_000015.8:g.87662882C>T NCBI36
NG_008218.1:g.21149G>A
NG_011736.1:g.79685C>T , LRG_500:g.79685C>T
NG_008218.2:g.21149G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3376G>A ENSP00000516154.1:p.Asp1126Asn
ENST00000268124.11:c.3376G>A MANE Select ENSP00000268124.5:p.Asp1126Asn
ENST00000530292.3:c.2977G>A ENSP00000432885.2:p.Asp993Asn
ENST00000635986.2:c.*446G>A ENSP00000490653.2:n.*446G>A
ENST00000636774.1:c.*1943G>A ENSP00000489799.1:n.*1943G>A
ENST00000637238.1:c.2185G>A ENSP00000490756.1:n.2185G>A
ENST00000637264.1:c.2448G>A
ENST00000666746.1:c.2953G>A
ENST00000672071.1:n.3574G>A
ENST00000672695.1:n.553G>A
ENST00000672923.2:n.3376G>A
ENST00000268124.9:c.3376G>A ENSP00000268124.5:p.Asp1126Asn
ENST00000442287.6:c.3376G>A ENSP00000399851.2:p.Asp1126Asn
ENST00000530292.2:c.460G>A ENSP00000432885.1:p.Asp154Asn
ENST00000631044.2:c.*2800G>A ENSP00000486730.1:n.*2800G>A
NM_001126131.1:c.3376G>A NP_001119603.1:p.Asp1126Asn
NM_002693.2:c.3376G>A NP_002684.1:p.Asp1126Asn
NM_001126131.2:c.3376G>A NP_001119603.1:p.Asp1126Asn
NM_002693.3:c.3376G>A MANE Select NP_002684.1:p.Asp1126Asn