Canonical Allele Identifier: CA231406
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 129995
ClinVar RCV Id: RCV000118017 RCV001526411
dbSNP Id: rs587780421
MyVariant Identifiers: chr15:g.89861961T>G (hg19) chr15:g.89318730T>G (hg38)
ERepo: CA231406/MONDO:0044970/014
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89318730T>G , CM000677.2:g.89318730T>G GRCh38
NC_000015.9:g.89861961T>G , CM000677.1:g.89861961T>G GRCh37
NC_000015.8:g.87662965T>G NCBI36
NG_008218.1:g.21066A>C
NG_011736.1:g.79768T>G , LRG_500:g.79768T>G
NG_008218.2:g.21066A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3293A>C ENSP00000516154.1:p.Asn1098Thr
ENST00000268124.11:c.3293A>C MANE Select ENSP00000268124.5:p.Asn1098Thr
ENST00000530292.3:c.2894A>C ENSP00000432885.2:p.Asn965Thr
ENST00000635986.2:c.*363A>C ENSP00000490653.2:n.*363A>C
ENST00000636774.1:c.*1860A>C ENSP00000489799.1:n.*1860A>C
ENST00000637238.1:c.2102A>C ENSP00000490756.1:n.2102A>C
ENST00000637264.1:c.2365A>C
ENST00000666746.1:c.2870A>C
ENST00000672071.1:n.3491A>C
ENST00000672695.1:n.470A>C
ENST00000672923.2:n.3293A>C
ENST00000268124.9:c.3293A>C ENSP00000268124.5:p.Asn1098Thr
ENST00000442287.6:c.3293A>C ENSP00000399851.2:p.Asn1098Thr
ENST00000530292.2:c.377A>C ENSP00000432885.1:p.Asn126Thr
ENST00000631044.2:c.*2717A>C ENSP00000486730.1:n.*2717A>C
NM_001126131.1:c.3293A>C NP_001119603.1:p.Asn1098Thr
NM_002693.2:c.3293A>C NP_002684.1:p.Asn1098Thr
NM_001126131.2:c.3293A>C NP_001119603.1:p.Asn1098Thr
NM_002693.3:c.3293A>C MANE Select NP_002684.1:p.Asn1098Thr
Search 100 bp 5'
Search 100 bp 3'