Canonical Allele Identifier: CA7724552
Gene: POLG HGNC NCBI

Linked Data

dbSNP Id: rs749799926

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323481G>A , CM000677.2:g.89323481G>A GRCh38
NC_000015.9:g.89866712G>A , CM000677.1:g.89866712G>A GRCh37
NC_000015.8:g.87667716G>A NCBI36
NG_008218.1:g.16315C>T
NG_008218.2:g.16315C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2188C>T ENSP00000516154.1:p.Pro730Ser
ENST00000268124.11:c.2188C>T MANE Select ENSP00000268124.5:p.Pro730Ser
ENST00000530292.3:c.1789C>T ENSP00000432885.2:p.Pro597Ser
ENST00000635986.2:c.2188C>T ENSP00000490653.2:p.Pro730Ser
ENST00000636774.1:c.*755C>T ENSP00000489799.1:n.*755C>T
ENST00000637238.1:c.885C>T ENSP00000490756.1:n.885C>T
ENST00000637264.1:c.1260C>T
ENST00000666746.1:c.1765C>T
ENST00000670281.1:c.508C>T ENSP00000499709.1:p.Pro170Ser
ENST00000672071.1:n.2386C>T
ENST00000672923.2:n.2291C>T
ENST00000268124.9:c.2188C>T ENSP00000268124.5:p.Pro730Ser
ENST00000442287.6:c.2188C>T ENSP00000399851.2:p.Pro730Ser
ENST00000526314.2:c.539+334C>T
ENST00000526398.1:c.337C>T
ENST00000532584.5:n.390C>T
ENST00000631044.2:c.*1612C>T ENSP00000486730.1:n.*1612C>T
NM_001126131.1:c.2188C>T NP_001119603.1:p.Pro730Ser
NM_002693.2:c.2188C>T NP_002684.1:p.Pro730Ser
NM_001126131.2:c.2188C>T NP_001119603.1:p.Pro730Ser
NM_002693.3:c.2188C>T MANE Select NP_002684.1:p.Pro730Ser