Canonical Allele Identifier: CA123140
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 13496
ClinVar RCV Id: RCV000014440 RCV000014441 RCV000014442 RCV000014443 RCV000184011 RCV000188658 RCV000347876 RCV000508942 RCV000515354 RCV000735201 RCV001004604 RCV001095683 RCV001198082 RCV001376079 RCV001731286 RCV001813983 RCV001847600 RCV002273931 RCV002316195
dbSNP Id: rs113994095
ExAC: 15:89870432 C / T
gnomAD v2: 15-89870432-C-T
gnomAD v3: 15-89327201-C-T
gnomAD v4: 15-89327201-C-T
MyVariant Identifiers: chr15:g.89870432C>T (hg19) chr15:g.89327201C>T (hg38)
PubMed: PMID:632821 PMID:11431686 PMID:11571332 PMID:12565911 PMID:14694057 PMID:15122711 PMID:15477547 PMID:15689359 PMID:15824347 PMID:15917273 PMID:16024923 PMID:16130100 PMID:16177225 PMID:16368709 PMID:16638794 PMID:17426723 PMID:17438011 PMID:18500570 PMID:19010300 PMID:19251978 PMID:20142534 PMID:20301791 PMID:20576279 PMID:20818383 PMID:20837861 PMID:21235791 PMID:21276947 PMID:21515089 PMID:21647632 PMID:21880868 PMID:21993618 PMID:22006280 PMID:22189570 PMID:22342071 PMID:22711370 PMID:23212759 PMID:23448099 PMID:23783014 PMID:23891399 PMID:26735972 PMID:26942291 PMID:26942292 PMID:28812649
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327201C>T , CM000677.2:g.89327201C>T GRCh38
NC_000015.9:g.89870432C>T , CM000677.1:g.89870432C>T GRCh37
NC_000015.8:g.87671436C>T NCBI36
NG_008218.1:g.12595G>A
NG_008218.2:g.12595G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.1399G>A ENSP00000516154.1:p.Ala467Thr
ENST00000268124.11:c.1399G>A MANE Select ENSP00000268124.5:p.Ala467Thr
ENST00000530292.3:c.1000G>A ENSP00000432885.2:p.Ala334Thr
ENST00000635986.2:c.1399G>A ENSP00000490653.2:p.Ala467Thr
ENST00000636774.1:c.1399G>A ENSP00000489799.1:p.Ala467Thr
ENST00000637238.1:c.136G>A ENSP00000490756.1:p.Ala46Thr
ENST00000637264.1:c.471G>A
ENST00000666746.1:c.976G>A
ENST00000672071.1:n.1597G>A
ENST00000672923.2:n.1502G>A
ENST00000268124.9:c.1399G>A ENSP00000268124.5:p.Ala467Thr
ENST00000442287.6:c.1399G>A ENSP00000399851.2:p.Ala467Thr
ENST00000532363.2:n.257G>A
ENST00000631044.2:c.*782G>A ENSP00000486730.1:n.*782G>A
NM_001126131.1:c.1399G>A NP_001119603.1:p.Ala467Thr
NM_002693.2:c.1399G>A NP_002684.1:p.Ala467Thr
NM_001126131.2:c.1399G>A NP_001119603.1:p.Ala467Thr
NM_002693.3:c.1399G>A MANE Select NP_002684.1:p.Ala467Thr
Search 100 bp 5'
Search 100 bp 3'