Canonical Allele Identifier: CA2194539152
Community Standard Title: NM_002693.3(POLG):c.3573G= (p.Lys1191=)
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317446C= , CM000677.2:g.89317446C= GRCh38
NC_000015.9:g.89860677C= , CM000677.1:g.89860677C= GRCh37
NC_000015.8:g.87661681C= NCBI36
NG_008218.1:g.22350G=
NG_011736.1:g.78484C= , LRG_500:g.78484C=
NG_008218.2:g.22350G=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.3573G= MANE Select NP_002684.1:p.Lys1191=
ENST00000268124.11:c.3573G= MANE Select ENSP00000268124.5:p.Lys1191=
NM_001126131.1:c.3573G= NP_001119603.1:p.Lys1191=
NM_001126131.2:c.3573G= NP_001119603.1:p.Lys1191=
NM_002693.2:c.3573G= NP_002684.1:p.Lys1191=
ENST00000268124.9:c.3573G= ENSP00000268124.5:p.Lys1191=
ENST00000442287.6:c.3573G= ENSP00000399851.2:p.Lys1191=
ENST00000526671.1:n.383G=
ENST00000530292.2:c.756G= ENSP00000432885.1:n.756G=
ENST00000530292.3:c.3273G= ENSP00000432885.2:n.3273G=
ENST00000631044.2:c.*2997G= ENSP00000486730.1:n.*2997G=
ENST00000635986.2:c.*643G= ENSP00000490653.2:n.*643G=
ENST00000636774.1:c.*2177G= ENSP00000489799.1:n.*2177G=
ENST00000636937.2:c.3573G= ENSP00000516154.1:p.Lys1191=
ENST00000637042.1:n.97G=
ENST00000637238.1:c.2481G= ENSP00000490756.1:n.2481G=
ENST00000637264.1:c.2585G=
ENST00000666746.1:c.3150G=
ENST00000672071.1:n.4775G=
ENST00000672695.1:n.1352G=
ENST00000672923.2:n.3573G=