Canonical Allele Identifier: CA5921922
Gene: NELL1 HGNC NCBI
MyVariant.info:
GRCh38 chr11:g.20783740G>A
GRCh37 chr11:g.20805286G>A
Revel Score:
ENST00000298925 0.084
ENST00000357134 (MANE Select) 0.084
ENST00000325319 0.084
ENST00000532434 0.084
gnomAD v2:
11:20805286 G / A
gnomAD v3:
11:20783740 G / A
gnomAD v4:
chr11-20783740-G-A
Joint Max Group AF 0.85367776 (AMR)
Genomes Max Group AF 0.83053012 (EAS)
Exomes Max Group AF 0.86658921 (AMR)
dbSNP:
8176785
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.20783740G>A , CM000673.2:g.20783740G>A GRCh38
NC_000011.9:g.20805286G>A , CM000673.1:g.20805286G>A GRCh37
NC_000011.8:g.20761862G>A NCBI36
NG_047064.1:g.119190G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357134.10:c.245G>A MANE Select ENSP00000349654.5:p.Arg82Gln
ENST00000298925.9:c.329G>A ENSP00000298925.5:p.Arg110Gln
ENST00000325319.9:c.245G>A ENSP00000317837.5:p.Arg82Gln
ENST00000357134.9:c.245G>A ENSP00000349654.5:p.Arg82Gln
ENST00000524738.1:n.72G>A
ENST00000527873.5:n.266G>A
ENST00000528046.5:n.428G>A
ENST00000529595.1:n.133G>A
ENST00000532434.5:c.245G>A ENSP00000437170.1:p.Arg82Gln
ENST00000619031.4:c.-468G>A ENSP00000479479.1:n.-468G>A
NM_001288713.1:c.329G>A NP_001275642.1:p.Arg110Gln
NM_001288714.1:c.245G>A NP_001275643.1:p.Arg82Gln
NM_006157.4:c.245G>A NP_006148.2:p.Arg82Gln
NM_201551.2:c.245G>A NP_963845.1:p.Arg82Gln
NM_006157.5:c.245G>A MANE Select NP_006148.2:p.Arg82Gln
Search 100 bp 5'
Search 100 bp 3'