Canonical Allele Identifier: CA2194539030
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317413G= , CM000677.2:g.89317413G= GRCh38
NC_000015.9:g.89860644G= , CM000677.1:g.89860644G= GRCh37
NC_000015.8:g.87661648G= NCBI36
NG_008218.1:g.22383C=
NG_011736.1:g.78451G= , LRG_500:g.78451G=
NG_008218.2:g.22383C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3606C= ENSP00000516154.1:p.Asn1202=
ENST00000268124.11:c.3606C= MANE Select ENSP00000268124.5:p.Asn1202=
ENST00000530292.3:c.3306C= ENSP00000432885.2:n.3306C=
ENST00000635986.2:c.*676C= ENSP00000490653.2:n.*676C=
ENST00000636774.1:c.*2210C= ENSP00000489799.1:n.*2210C=
ENST00000637238.1:c.2514C= ENSP00000490756.1:n.2514C=
ENST00000637264.1:c.2618C=
ENST00000666746.1:c.3183C=
ENST00000672071.1:n.4808C=
ENST00000672695.1:n.1385C=
ENST00000672923.2:n.3606C=
ENST00000268124.9:c.3606C= ENSP00000268124.5:p.Asn1202=
ENST00000442287.6:c.3606C= ENSP00000399851.2:p.Asn1202=
ENST00000526671.1:n.416C=
ENST00000530292.2:c.789C= ENSP00000432885.1:n.789C=
ENST00000631044.2:c.*3030C= ENSP00000486730.1:n.*3030C=
NM_001126131.1:c.3606C= NP_001119603.1:p.Asn1202=
NM_002693.2:c.3606C= NP_002684.1:p.Asn1202=
NM_001126131.2:c.3606C= NP_001119603.1:p.Asn1202=
NM_002693.3:c.3606C= MANE Select NP_002684.1:p.Asn1202=