Canonical Allele Identifier: CA380052559

Gene: NELL1

Linked Data

• gnomAD v4: 11-20783775-C-A
• MyVariant Identifiers: chr11:g.20805321C>A (hg19) ; chr11:g.20783775C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783775C>A , CM000673.2:g.20783775C>A	GRCh38
NC_000011.9:g.20805321C>A , CM000673.1:g.20805321C>A	GRCh37
NC_000011.8:g.20761897C>A	NCBI36
NG_047064.1:g.119225C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.280C>A MANE Select	ENSP00000349654.5:p.Gln94Lys
ENST00000298925.9:c.364C>A	ENSP00000298925.5:p.Gln122Lys
ENST00000325319.9:c.280C>A	ENSP00000317837.5:p.Gln94Lys
ENST00000357134.9:c.280C>A	ENSP00000349654.5:p.Gln94Lys
ENST00000524738.1:n.107C>A
ENST00000527873.5:n.301C>A
ENST00000528046.5:n.463C>A
ENST00000529595.1:n.168C>A
ENST00000532434.5:c.280C>A	ENSP00000437170.1:p.Gln94Lys
ENST00000619031.4:c.-433C>A	ENSP00000479479.1:n.-433C>A
NM_001288713.1:c.364C>A	NP_001275642.1:p.Gln122Lys
NM_001288714.1:c.280C>A	NP_001275643.1:p.Gln94Lys
NM_006157.4:c.280C>A	NP_006148.2:p.Gln94Lys
NM_201551.2:c.280C>A	NP_963845.1:p.Gln94Lys
NM_006157.5:c.280C>A MANE Select	NP_006148.2:p.Gln94Lys