Canonical Allele Identifier: CA2725893
Gene: HTR3E HGNC NCBI
HTR3E-AS1 HGNC NCBI
EIF2B5-DT HGNC NCBI
COSMIC:
COSM3927782 (not active)
MyVariant.info:
GRCh38 chr3:g.184100628G>A
GRCh37 chr3:g.183818416G>A
Revel Score:
ENST00000415389 (MANE Select) 0.140
ENST00000425359 0.140
ENST00000335304 0.140
ENST00000436361 0.140
ENST00000440596 0.140
gnomAD v2:
3:183818416 G / A
gnomAD v3:
3:184100628 G / A
gnomAD v4:
chr3-184100628-G-A
Joint Max Group AF 0.8785143 (AFR)
Genomes Max Group AF 0.87008053 (AFR)
Exomes Max Group AF 0.88375934 (AFR)
ClinVar RCV:
RCV001648064
ClinVar Variation:
1242214
dbSNP:
7627615
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.184100628G>A , CM000665.2:g.184100628G>A GRCh38
NC_000003.11:g.183818416G>A , CM000665.1:g.183818416G>A GRCh37
NC_000003.10:g.185301110G>A NCBI36
NG_012452.1:g.5450G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000335304.6:c.256G>A (HTR3E) ENSP00000335511.2:p.Ala86Thr
ENST00000415389.6:c.211G>A (HTR3E) MANE Select ENSP00000401444.2:p.Ala71Thr
ENST00000425359.6:c.211G>A (HTR3E) ENSP00000401900.2:p.Ala71Thr
ENST00000431041.5:c.-3G>A (HTR3E) ENSP00000391254.1:n.-3G>A
ENST00000436361.6:c.256G>A (HTR3E) ENSP00000395833.2:p.Ala86Thr
ENST00000440596.2:c.256G>A (HTR3E) ENSP00000406050.2:p.Ala86Thr
NM_001256613.1:c.211G>A (HTR3E) NP_001243542.1:p.Ala71Thr
NM_001256614.1:c.256G>A (HTR3E) NP_001243543.1:p.Ala86Thr
NM_182589.2:c.256G>A (HTR3E) NP_872395.2:p.Ala86Thr
NM_198313.2:c.211G>A (HTR3E) NP_938055.1:p.Ala71Thr
NM_198314.2:c.256G>A (HTR3E) NP_938056.1:p.Ala86Thr
NR_133658.1:n.282+3532C>T (HTR3E-AS1)
XR_002959683.1:n.671-26541C>T (EIF2B5-DT)
NM_001256613.2:c.211G>A (HTR3E) MANE Select NP_001243542.1:p.Ala71Thr
NM_198313.3:c.211G>A (HTR3E) NP_938055.1:p.Ala71Thr
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