Canonical Allele Identifier: CA118902
Gene: UCP3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.74006298G>A
GRCh37 chr11:g.73717343G>A
Revel Score:
ENST00000314032 (MANE Select) 0.666
ENST00000348534 0.666
ENST00000426995 0.666
ENST00000544614 0.666
gnomAD v2:
11:73717343 G / A
gnomAD v3:
11:74006298 G / A
gnomAD v4:
chr11-74006298-G-A
Joint Max Group AF 0.00033162 (EAS)
Genomes Max Group AF 0.00006816 (EAS)
Exomes Max Group AF 0.0003337 (EAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74006298G>A , CM000673.2:g.74006298G>A GRCh38
NC_000011.9:g.73717343G>A , CM000673.1:g.73717343G>A GRCh37
NC_000011.8:g.73394991G>A NCBI36
NG_011515.1:g.7940C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314032.9:c.208C>T MANE Select ENSP00000323740.4:p.Arg70Trp
ENST00000314032.8:c.208C>T ENSP00000323740.4:p.Arg70Trp
ENST00000426995.2:c.208C>T ENSP00000392143.2:p.Arg70Trp
ENST00000544614.1:c.208C>T ENSP00000445279.1:p.Arg70Trp
NM_003356.3:c.208C>T NP_003347.1:p.Arg70Trp
NM_022803.2:c.208C>T NP_073714.1:p.Arg70Trp
XR_950298.1:n.1768+10264G>A
NM_003356.4:c.208C>T MANE Select NP_003347.1:p.Arg70Trp
NM_022803.3:c.208C>T NP_073714.1:p.Arg70Trp
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