Canonical Allele Identifier: CA274540655
Gene: POLG HGNC NCBI

Linked Data

dbSNP Id: rs189333821

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318452C>A , CM000677.2:g.89318452C>A GRCh38
NC_000015.9:g.89861683C>A , CM000677.1:g.89861683C>A GRCh37
NC_000015.8:g.87662687C>A NCBI36
NG_008218.1:g.21344G>T
NG_011736.1:g.79490C>A , LRG_500:g.79490C>A
NG_008218.2:g.21344G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3482+89G>T ENSP00000516154.1:n.3482+89G>T
ENST00000268124.11:c.3482+89G>T MANE Select ENSP00000268124.5:n.3482+89G>T
ENST00000530292.3:c.3083+89G>T ENSP00000432885.2:n.3083+89G>T
ENST00000635986.2:c.*552+89G>T ENSP00000490653.2:n.*552+89G>T
ENST00000636774.1:c.*2049+89G>T ENSP00000489799.1:n.*2049+89G>T
ENST00000637238.1:c.2291+89G>T ENSP00000490756.1:n.2291+89G>T
ENST00000637264.1:c.2554+89G>T
ENST00000666746.1:c.3059+89G>T
ENST00000672071.1:n.3769G>T
ENST00000672695.1:n.748G>T
ENST00000672923.2:n.3482+89G>T
ENST00000268124.9:c.3482+89G>T ENSP00000268124.5:n.3482+89G>T
ENST00000442287.6:c.3482+89G>T ENSP00000399851.2:n.3482+89G>T
ENST00000530292.2:c.566+89G>T ENSP00000432885.1:n.566+89G>T
ENST00000631044.2:c.*2906+89G>T ENSP00000486730.1:n.*2906+89G>T
NM_001126131.1:c.3482+89G>T NP_001119603.1:n.3482+89G>T
NM_002693.2:c.3482+89G>T NP_002684.1:n.3482+89G>T
NM_001126131.2:c.3482+89G>T NP_001119603.1:n.3482+89G>T
NM_002693.3:c.3482+89G>T MANE Select NP_002684.1:n.3482+89G>T