Canonical Allele Identifier: CA380052487

Gene: NELL1

Linked Data

• gnomAD v4: 11-20783743-A-G
• MyVariant Identifiers: chr11:g.20805289A>G (hg19) ; chr11:g.20783743A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783743A>G , CM000673.2:g.20783743A>G	GRCh38
NC_000011.9:g.20805289A>G , CM000673.1:g.20805289A>G	GRCh37
NC_000011.8:g.20761865A>G	NCBI36
NG_047064.1:g.119193A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357134.10:c.248A>G MANE Select	ENSP00000349654.5:p.Asn83Ser
ENST00000298925.9:c.332A>G	ENSP00000298925.5:p.Asn111Ser
ENST00000325319.9:c.248A>G	ENSP00000317837.5:p.Asn83Ser
ENST00000357134.9:c.248A>G	ENSP00000349654.5:p.Asn83Ser
ENST00000524738.1:n.75A>G
ENST00000527873.5:n.269A>G
ENST00000528046.5:n.431A>G
ENST00000529595.1:n.136A>G
ENST00000532434.5:c.248A>G	ENSP00000437170.1:p.Asn83Ser
ENST00000619031.4:c.-465A>G	ENSP00000479479.1:n.-465A>G
NM_001288713.1:c.332A>G	NP_001275642.1:p.Asn111Ser
NM_001288714.1:c.248A>G	NP_001275643.1:p.Asn83Ser
NM_006157.4:c.248A>G	NP_006148.2:p.Asn83Ser
NM_201551.2:c.248A>G	NP_963845.1:p.Asn83Ser
NM_006157.5:c.248A>G MANE Select	NP_006148.2:p.Asn83Ser