Canonical Allele Identifier: CA2194543203
Community Standard Title: NM_002693.3(POLG):c.3151G= (p.Gly1051=)
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89319053C= , CM000677.2:g.89319053C= GRCh38
NC_000015.9:g.89862284C= , CM000677.1:g.89862284C= GRCh37
NC_000015.8:g.87663288C= NCBI36
NG_008218.1:g.20743G=
NG_011736.1:g.80091C= , LRG_500:g.80091C=
NG_008218.2:g.20743G=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.3151G= MANE Select NP_002684.1:p.Gly1051=
ENST00000268124.11:c.3151G= MANE Select ENSP00000268124.5:p.Gly1051=
NM_001126131.1:c.3151G= NP_001119603.1:p.Gly1051=
NM_001126131.2:c.3151G= NP_001119603.1:p.Gly1051=
NM_002693.2:c.3151G= NP_002684.1:p.Gly1051=
ENST00000268124.9:c.3151G= ENSP00000268124.5:p.Gly1051=
ENST00000442287.6:c.3151G= ENSP00000399851.2:p.Gly1051=
ENST00000530292.2:c.235G= ENSP00000432885.1:p.Gly79=
ENST00000530292.3:c.2752G= ENSP00000432885.2:p.Gly918=
ENST00000631044.2:c.*2575G= ENSP00000486730.1:n.*2575G=
ENST00000635986.2:c.*221G= ENSP00000490653.2:n.*221G=
ENST00000636774.1:c.*1718G= ENSP00000489799.1:n.*1718G=
ENST00000636937.2:c.3151G= ENSP00000516154.1:p.Gly1051=
ENST00000637238.1:c.1960G= ENSP00000490756.1:n.1960G=
ENST00000637264.1:c.2223G=
ENST00000666746.1:c.2728G=
ENST00000672071.1:n.3349G=
ENST00000672695.1:n.328G=
ENST00000672923.2:n.3151G=