Canonical Allele Identifier: CA393747331
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3606C>A ENSP00000516154.1:p.Asn1202Lys
ENST00000268124.11:c.3606C>A MANE Select ENSP00000268124.5:p.Asn1202Lys
ENST00000530292.3:c.3306C>A ENSP00000432885.2:n.3306C>A
ENST00000635986.2:c.*676C>A ENSP00000490653.2:n.*676C>A
ENST00000636774.1:c.*2210C>A ENSP00000489799.1:n.*2210C>A
ENST00000637238.1:c.2514C>A ENSP00000490756.1:n.2514C>A
ENST00000637264.1:c.2618C>A
ENST00000666746.1:c.3183C>A
ENST00000672071.1:n.4808C>A
ENST00000672695.1:n.1385C>A
ENST00000672923.2:n.3606C>A
ENST00000268124.9:c.3606C>A ENSP00000268124.5:p.Asn1202Lys
ENST00000442287.6:c.3606C>A ENSP00000399851.2:p.Asn1202Lys
ENST00000526671.1:n.416C>A
ENST00000530292.2:c.789C>A ENSP00000432885.1:n.789C>A
ENST00000631044.2:c.*3030C>A ENSP00000486730.1:n.*3030C>A
NM_001126131.1:c.3606C>A NP_001119603.1:p.Asn1202Lys
NM_002693.2:c.3606C>A NP_002684.1:p.Asn1202Lys
NM_001126131.2:c.3606C>A NP_001119603.1:p.Asn1202Lys
NM_002693.3:c.3606C>A MANE Select NP_002684.1:p.Asn1202Lys