Canonical Allele Identifier: CA393747470
Gene: POLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89860677C>G (hg19) chr15:g.89317446C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89317446C>G , CM000677.2:g.89317446C>G GRCh38
NC_000015.9:g.89860677C>G , CM000677.1:g.89860677C>G GRCh37
NC_000015.8:g.87661681C>G NCBI36
NG_008218.1:g.22350G>C
NG_011736.1:g.78484C>G , LRG_500:g.78484C>G
NG_008218.2:g.22350G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.3573G>C ENSP00000516154.1:p.Lys1191Asn
ENST00000268124.11:c.3573G>C MANE Select ENSP00000268124.5:p.Lys1191Asn
ENST00000530292.3:c.3273G>C ENSP00000432885.2:n.3273G>C
ENST00000635986.2:c.*643G>C ENSP00000490653.2:n.*643G>C
ENST00000636774.1:c.*2177G>C ENSP00000489799.1:n.*2177G>C
ENST00000637042.1:n.97G>C
ENST00000637238.1:c.2481G>C ENSP00000490756.1:n.2481G>C
ENST00000637264.1:c.2585G>C
ENST00000666746.1:c.3150G>C
ENST00000672071.1:n.4775G>C
ENST00000672695.1:n.1352G>C
ENST00000672923.2:n.3573G>C
ENST00000268124.9:c.3573G>C ENSP00000268124.5:p.Lys1191Asn
ENST00000442287.6:c.3573G>C ENSP00000399851.2:p.Lys1191Asn
ENST00000526671.1:n.383G>C
ENST00000530292.2:c.756G>C ENSP00000432885.1:n.756G>C
ENST00000631044.2:c.*2997G>C ENSP00000486730.1:n.*2997G>C
NM_001126131.1:c.3573G>C NP_001119603.1:p.Lys1191Asn
NM_002693.2:c.3573G>C NP_002684.1:p.Lys1191Asn
NM_001126131.2:c.3573G>C NP_001119603.1:p.Lys1191Asn
NM_002693.3:c.3573G>C MANE Select NP_002684.1:p.Lys1191Asn
Search 100 bp 5'
Search 100 bp 3'