Canonical Allele Identifier: CA118899
Gene: UCP3 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.74006202C>T
GRCh37 chr11:g.73717247C>T
Revel Score:
ENST00000314032 (MANE Select) 0.450
ENST00000348534 0.450
ENST00000426995 0.450
gnomAD v2:
11:73717247 C / T
gnomAD v3:
11:74006202 C / T
gnomAD v4:
chr11-74006202-C-T
Joint Max Group AF 0.12718665 (AFR)
Genomes Max Group AF 0.12429014 (AFR)
Exomes Max Group AF 0.12879922 (AFR)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.74006202C>T , CM000673.2:g.74006202C>T GRCh38
NC_000011.9:g.73717247C>T , CM000673.1:g.73717247C>T GRCh37
NC_000011.8:g.73394895C>T NCBI36
NG_011515.1:g.8036G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000314032.9:c.304G>A MANE Select ENSP00000323740.4:p.Val102Ile
ENST00000314032.8:c.304G>A ENSP00000323740.4:p.Val102Ile
ENST00000426995.2:c.304G>A ENSP00000392143.2:p.Val102Ile
NM_003356.3:c.304G>A NP_003347.1:p.Val102Ile
NM_022803.2:c.304G>A NP_073714.1:p.Val102Ile
XR_950298.1:n.1768+10168C>T
NM_003356.4:c.304G>A MANE Select NP_003347.1:p.Val102Ile
NM_022803.3:c.304G>A NP_073714.1:p.Val102Ile
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