Canonical Allele Identifier: CA393766912
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89330158C>T , CM000677.2:g.89330158C>T GRCh38
NC_000015.9:g.89873389C>T , CM000677.1:g.89873389C>T GRCh37
NC_000015.8:g.87674393C>T NCBI36
NG_008218.1:g.9638G>A
NG_008218.2:g.9638G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.778G>A ENSP00000516154.1:p.Asp260Asn
ENST00000268124.11:c.778G>A MANE Select ENSP00000268124.5:p.Asp260Asn
ENST00000530292.3:c.379G>A ENSP00000432885.2:p.Asp127Asn
ENST00000635986.2:c.778G>A ENSP00000490653.2:p.Asp260Asn
ENST00000636774.1:c.778G>A ENSP00000489799.1:p.Asp260Asn
ENST00000666746.1:c.435G>A
ENST00000672071.1:n.976G>A
ENST00000268124.9:c.778G>A ENSP00000268124.5:p.Asp260Asn
ENST00000442287.6:c.778G>A ENSP00000399851.2:p.Asp260Asn
ENST00000631044.2:c.*161G>A ENSP00000486730.1:n.*161G>A
NM_001126131.1:c.778G>A NP_001119603.1:p.Asp260Asn
NM_002693.2:c.778G>A NP_002684.1:p.Asp260Asn
NM_001126131.2:c.778G>A NP_001119603.1:p.Asp260Asn
NM_002693.3:c.778G>A MANE Select NP_002684.1:p.Asp260Asn