Canonical Allele Identifier: CA15290360
Gene: HTR3E HGNC NCBI
EIF2B5-DT HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.184106769G>A
GRCh37 chr3:g.183824557G>A
gnomAD v2:
3:183824557 G / A
gnomAD v3:
3:184106769 G / A
gnomAD v4:
chr3-184106769-G-A
Joint Max Group AF 0.04686441 (NFE)
Genomes Max Group AF 0.04345633 (NFE)
Exomes Max Group AF 0.04702487 (NFE)
dbSNP:
56109847
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184106769G>A , CM000665.2:g.184106769G>A GRCh38
NC_000003.11:g.183824557G>A , CM000665.1:g.183824557G>A GRCh37
NC_000003.10:g.185307251G>A NCBI36
NG_012452.1:g.11591G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335304.6:c.*76G>A (HTR3E) ENSP00000335511.2:n.*76G>A
ENST00000415389.6:c.*76G>A (HTR3E) MANE Select ENSP00000401444.2:n.*76G>A
NM_001256613.1:c.*76G>A (HTR3E) NP_001243542.1:n.*76G>A
NM_001256614.1:c.*76G>A (HTR3E) NP_001243543.1:n.*76G>A
NM_182589.2:c.*76G>A (HTR3E) NP_872395.2:n.*76G>A
NM_198313.2:c.*76G>A (HTR3E) NP_938055.1:n.*76G>A
NM_198314.2:c.*76G>A (HTR3E) NP_938056.1:n.*76G>A
XR_002959683.1:n.670+27767C>T (EIF2B5-DT)
NM_001256613.2:c.*76G>A (HTR3E) MANE Select NP_001243542.1:n.*76G>A
NM_198313.3:c.*76G>A (HTR3E) NP_938055.1:n.*76G>A
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