Canonical Allele Identifier: CA2194557889
Community Standard Title: NM_002693.3(POLG):c.1399G= (p.Ala467=)
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327201C= , CM000677.2:g.89327201C= GRCh38
NC_000015.9:g.89870432C= , CM000677.1:g.89870432C= GRCh37
NC_000015.8:g.87671436C= NCBI36
NG_008218.1:g.12595G=
NG_008218.2:g.12595G=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.1399G= MANE Select NP_002684.1:p.Ala467=
ENST00000268124.11:c.1399G= MANE Select ENSP00000268124.5:p.Ala467=
NM_001126131.1:c.1399G= NP_001119603.1:p.Ala467=
NM_001126131.2:c.1399G= NP_001119603.1:p.Ala467=
NM_002693.2:c.1399G= NP_002684.1:p.Ala467=
ENST00000268124.9:c.1399G= ENSP00000268124.5:p.Ala467=
ENST00000442287.6:c.1399G= ENSP00000399851.2:p.Ala467=
ENST00000530292.3:c.1000G= ENSP00000432885.2:p.Ala334=
ENST00000532363.2:n.257G=
ENST00000631044.2:c.*782G= ENSP00000486730.1:n.*782G=
ENST00000635986.2:c.1399G= ENSP00000490653.2:p.Ala467=
ENST00000636774.1:c.1399G= ENSP00000489799.1:p.Ala467=
ENST00000636937.2:c.1399G= ENSP00000516154.1:p.Ala467=
ENST00000637238.1:c.136G= ENSP00000490756.1:p.Ala46=
ENST00000637264.1:c.471G=
ENST00000666746.1:c.976G=
ENST00000672071.1:n.1597G=
ENST00000672923.2:n.1502G=