Canonical Allele Identifier: CA393754614
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321824T>G , CM000677.2:g.89321824T>G GRCh38
NC_000015.9:g.89865055T>G , CM000677.1:g.89865055T>G GRCh37
NC_000015.8:g.87666059T>G NCBI36
NG_008218.1:g.17972A>C
NG_008218.2:g.17972A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2510A>C ENSP00000516154.1:p.Tyr837Ser
ENST00000268124.11:c.2510A>C MANE Select ENSP00000268124.5:p.Tyr837Ser
ENST00000530292.3:c.2111A>C ENSP00000432885.2:p.Tyr704Ser
ENST00000635986.2:c.2510A>C ENSP00000490653.2:p.Tyr837Ser
ENST00000636774.1:c.*1077A>C ENSP00000489799.1:n.*1077A>C
ENST00000637238.1:c.1207A>C ENSP00000490756.1:n.1207A>C
ENST00000637264.1:c.1582A>C
ENST00000666746.1:c.2087A>C
ENST00000670281.1:c.800+138A>C ENSP00000499709.1:n.800+138A>C
ENST00000672071.1:n.2708A>C
ENST00000672923.2:n.2452A>C
ENST00000268124.9:c.2510A>C ENSP00000268124.5:p.Tyr837Ser
ENST00000442287.6:c.2510A>C ENSP00000399851.2:p.Tyr837Ser
ENST00000528881.2:c.196-564A>C
ENST00000530715.5:c.185+918A>C ENSP00000431395.1:n.185+918A>C
ENST00000532584.5:n.659A>C
ENST00000631044.2:c.*1934A>C ENSP00000486730.1:n.*1934A>C
NM_001126131.1:c.2510A>C NP_001119603.1:p.Tyr837Ser
NM_002693.2:c.2510A>C NP_002684.1:p.Tyr837Ser
NM_001126131.2:c.2510A>C NP_001119603.1:p.Tyr837Ser
NM_002693.3:c.2510A>C MANE Select NP_002684.1:p.Tyr837Ser