Canonical Allele Identifier: CA2194557269
Community Standard Title: NM_002693.3(POLG):c.1493A= (p.Lys498=)
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327004T= , CM000677.2:g.89327004T= GRCh38
NC_000015.9:g.89870235T= , CM000677.1:g.89870235T= GRCh37
NC_000015.8:g.87671239T= NCBI36
NG_008218.1:g.12792A=
NG_008218.2:g.12792A=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.1493A= MANE Select NP_002684.1:p.Lys498=
ENST00000268124.11:c.1493A= MANE Select ENSP00000268124.5:p.Lys498=
NM_001126131.1:c.1493A= NP_001119603.1:p.Lys498=
NM_001126131.2:c.1493A= NP_001119603.1:p.Lys498=
NM_002693.2:c.1493A= NP_002684.1:p.Lys498=
ENST00000268124.9:c.1493A= ENSP00000268124.5:p.Lys498=
ENST00000442287.6:c.1493A= ENSP00000399851.2:p.Lys498=
ENST00000530292.3:c.1094A= ENSP00000432885.2:p.Lys365=
ENST00000631044.2:c.*876A= ENSP00000486730.1:n.*876A=
ENST00000635986.2:c.1493A= ENSP00000490653.2:p.Lys498=
ENST00000636774.1:c.*60A= ENSP00000489799.1:n.*60A=
ENST00000636937.2:c.1493A= ENSP00000516154.1:p.Lys498=
ENST00000637238.1:c.230A= ENSP00000490756.1:p.Lys77=
ENST00000637264.1:c.565A=
ENST00000666746.1:c.1070A=
ENST00000672071.1:n.1691A=
ENST00000672923.2:n.1596A=