Canonical Allele Identifier: CA393756914
Gene: POLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89323498C>G , CM000677.2:g.89323498C>G GRCh38
NC_000015.9:g.89866729C>G , CM000677.1:g.89866729C>G GRCh37
NC_000015.8:g.87667733C>G NCBI36
NG_008218.1:g.16298G>C
NG_008218.2:g.16298G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2171G>C ENSP00000516154.1:p.Gly724Ala
ENST00000268124.11:c.2171G>C MANE Select ENSP00000268124.5:p.Gly724Ala
ENST00000530292.3:c.1772G>C ENSP00000432885.2:p.Gly591Ala
ENST00000635986.2:c.2171G>C ENSP00000490653.2:p.Gly724Ala
ENST00000636774.1:c.*738G>C ENSP00000489799.1:n.*738G>C
ENST00000637238.1:c.868G>C ENSP00000490756.1:n.868G>C
ENST00000637264.1:c.1243G>C
ENST00000666746.1:c.1748G>C
ENST00000670281.1:c.491G>C ENSP00000499709.1:p.Gly164Ala
ENST00000672071.1:n.2369G>C
ENST00000672923.2:n.2274G>C
ENST00000268124.9:c.2171G>C ENSP00000268124.5:p.Gly724Ala
ENST00000442287.6:c.2171G>C ENSP00000399851.2:p.Gly724Ala
ENST00000526314.2:c.539+317G>C
ENST00000526398.1:c.320G>C
ENST00000532584.5:n.373G>C
ENST00000631044.2:c.*1595G>C ENSP00000486730.1:n.*1595G>C
NM_001126131.1:c.2171G>C NP_001119603.1:p.Gly724Ala
NM_002693.2:c.2171G>C NP_002684.1:p.Gly724Ala
NM_001126131.2:c.2171G>C NP_001119603.1:p.Gly724Ala
NM_002693.3:c.2171G>C MANE Select NP_002684.1:p.Gly724Ala