Canonical Allele Identifier: CA380052622

Gene: NELL1

Linked Data

• gnomAD v4: 11-20783806-T-A
• MyVariant Identifiers: chr11:g.20805352T>A (hg19) ; chr11:g.20783806T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783806T>A , CM000673.2:g.20783806T>A	GRCh38
NC_000011.9:g.20805352T>A , CM000673.1:g.20805352T>A	GRCh37
NC_000011.8:g.20761928T>A	NCBI36
NG_047064.1:g.119256T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.311T>A MANE Select	ENSP00000349654.5:p.Leu104Gln
ENST00000298925.9:c.395T>A	ENSP00000298925.5:p.Leu132Gln
ENST00000325319.9:c.311T>A	ENSP00000317837.5:p.Leu104Gln
ENST00000357134.9:c.311T>A	ENSP00000349654.5:p.Leu104Gln
ENST00000524738.1:n.138T>A
ENST00000527873.5:n.332T>A
ENST00000528046.5:n.494T>A
ENST00000529595.1:n.199T>A
ENST00000532434.5:c.311T>A	ENSP00000437170.1:p.Leu104Gln
ENST00000619031.4:c.-402T>A	ENSP00000479479.1:n.-402T>A
NM_001288713.1:c.395T>A	NP_001275642.1:p.Leu132Gln
NM_001288714.1:c.311T>A	NP_001275643.1:p.Leu104Gln
NM_006157.4:c.311T>A	NP_006148.2:p.Leu104Gln
NM_201551.2:c.311T>A	NP_963845.1:p.Leu104Gln
NM_006157.5:c.311T>A MANE Select	NP_006148.2:p.Leu104Gln