Canonical Allele Identifier: CA116052
Gene: UTP4 HGNC NCBI
MyVariant.info:
GRCh38 chr16:g.69165386C>T
GRCh37 chr16:g.69199289C>T
Revel Score:
ENST00000314423 (MANE Select) 0.431
ENST00000352319 0.431
gnomAD v2:
16:69199289 C / T
gnomAD v3:
16:69165386 C / T
gnomAD v4:
chr16-69165386-C-T
Joint Max Group AF 0.0138945 (AMR)
Genomes Max Group AF 0.00945603 (AMR)
Exomes Max Group AF 0.01505874 (AMR)
ClinVar RCV:
RCV000003345
RCV001851610
ClinVar Variation:
3194
dbSNP:
119465999
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.69165386C>T , CM000678.2:g.69165386C>T GRCh38
NC_000016.9:g.69199289C>T , CM000678.1:g.69199289C>T GRCh37
NC_000016.8:g.67756790C>T NCBI36
NG_008278.1:g.37791C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000314423.12:c.1693C>T MANE Select ENSP00000327179.7:p.Arg565Trp
ENST00000314423.11:c.1693C>T ENSP00000327179.7:p.Arg565Trp
ENST00000352319.8:c.1348C>T ENSP00000339164.4:p.Arg450Trp
ENST00000562237.5:c.1735C>T ENSP00000456709.1:p.Arg579Trp
ENST00000563094.5:c.1693C>T ENSP00000456622.1:p.Arg565Trp
ENST00000567500.1:c.519+2208C>T ENSP00000456317.1:n.519+2208C>T
NM_032830.2:c.1693C>T NP_116219.2:p.Arg565Trp
XM_005256204.1:c.1444C>T XP_005256261.1:p.Arg482Trp
XM_005256205.2:c.1276C>T XP_005256262.2:p.Arg426Trp
NM_001318391.1:c.1444C>T NP_001305320.1:p.Arg482Trp
XM_005256205.3:c.1276C>T XP_005256262.2:p.Arg426Trp
XR_001752011.2:n.1690C>T
NM_032830.3:c.1693C>T MANE Select NP_116219.2:p.Arg565Trp
NM_001318391.2:c.1444C>T NP_001305320.1:p.Arg482Trp
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