Canonical Allele Identifier: CA393749952
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318688A>T , CM000677.2:g.89318688A>T GRCh38
NC_000015.9:g.89861919A>T , CM000677.1:g.89861919A>T GRCh37
NC_000015.8:g.87662923A>T NCBI36
NG_008218.1:g.21108T>A
NG_011736.1:g.79726A>T , LRG_500:g.79726A>T
NG_008218.2:g.21108T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3335T>A ENSP00000516154.1:p.Met1112Lys
ENST00000268124.11:c.3335T>A MANE Select ENSP00000268124.5:p.Met1112Lys
ENST00000530292.3:c.2936T>A ENSP00000432885.2:p.Met979Lys
ENST00000635986.2:c.*405T>A ENSP00000490653.2:n.*405T>A
ENST00000636774.1:c.*1902T>A ENSP00000489799.1:n.*1902T>A
ENST00000637238.1:c.2144T>A ENSP00000490756.1:n.2144T>A
ENST00000637264.1:c.2407T>A
ENST00000666746.1:c.2912T>A
ENST00000672071.1:n.3533T>A
ENST00000672695.1:n.512T>A
ENST00000672923.2:n.3335T>A
ENST00000268124.9:c.3335T>A ENSP00000268124.5:p.Met1112Lys
ENST00000442287.6:c.3335T>A ENSP00000399851.2:p.Met1112Lys
ENST00000530292.2:c.419T>A ENSP00000432885.1:p.Met140Lys
ENST00000631044.2:c.*2759T>A ENSP00000486730.1:n.*2759T>A
NM_001126131.1:c.3335T>A NP_001119603.1:p.Met1112Lys
NM_002693.2:c.3335T>A NP_002684.1:p.Met1112Lys
NM_001126131.2:c.3335T>A NP_001119603.1:p.Met1112Lys
NM_002693.3:c.3335T>A MANE Select NP_002684.1:p.Met1112Lys