Canonical Allele Identifier: CA6181551
Gene: UCP3 HGNC NCBI
COSMIC:
COSM3752725 (not active)
MyVariant.info:
GRCh38 chr11:g.74006209A>G
GRCh37 chr11:g.73717254A>G
gnomAD v2:
11:73717254 A / G
gnomAD v3:
11:74006209 A / G
gnomAD v4:
chr11-74006209-A-G
Joint Max Group AF 0.60383873 (AFR)
Genomes Max Group AF 0.59340593 (AFR)
Exomes Max Group AF 0.61244564 (AFR)
ClinVar Allele:
1254477
ClinVar RCV:
RCV001677179
ClinVar Variation:
1267154
dbSNP:
1800006
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74006209A>G , CM000673.2:g.74006209A>G GRCh38
NC_000011.9:g.73717254A>G , CM000673.1:g.73717254A>G GRCh37
NC_000011.8:g.73394902A>G NCBI36
NG_011515.1:g.8029T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000314032.9:c.297T>C MANE Select ENSP00000323740.4:p.Tyr99=
ENST00000314032.8:c.297T>C ENSP00000323740.4:p.Tyr99=
ENST00000426995.2:c.297T>C ENSP00000392143.2:p.Tyr99=
NM_003356.3:c.297T>C NP_003347.1:p.Tyr99=
NM_022803.2:c.297T>C NP_073714.1:p.Tyr99=
XR_950298.1:n.1768+10175A>G
NM_003356.4:c.297T>C MANE Select NP_003347.1:p.Tyr99=
NM_022803.3:c.297T>C NP_073714.1:p.Tyr99=
Search 100 bp 5'
Search 100 bp 3'