Canonical Allele Identifier: CA7697190
Gene: MEX3B HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.82043585G>T
GRCh37 chr15:g.82335926G>T
Revel Score:
ENST00000329713 (MANE Select) 0.025
gnomAD v2:
15:82335926 G / T
gnomAD v3:
15:82043585 G / T
gnomAD v4:
chr15-82043585-G-T
Joint Max Group AF 0.00006406 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00006601 (NFE)
ClinVar RCV:
RCV004099477
ClinVar Variation:
2241973
dbSNP:
377464451
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.82043585G>T , CM000677.2:g.82043585G>T GRCh38
NC_000015.9:g.82335926G>T , CM000677.1:g.82335926G>T GRCh37
NC_000015.8:g.80122981G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000329713.5:c.1285C>A MANE Select ENSP00000329918.4:p.His429Asn
ENST00000329713.4:c.1285C>A ENSP00000329918.4:p.His429Asn
ENST00000558133.1:c.*1644C>A ENSP00000456938.1:n.*1644C>A
NM_032246.4:c.1285C>A NP_115622.2:p.His429Asn
NM_032246.5:c.1285C>A NP_115622.2:p.His429Asn
NM_032246.6:c.1285C>A MANE Select NP_115622.2:p.His429Asn
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