Canonical Allele Identifier: CA218987226

Gene: NELL1

Linked Data

• dbSNP Id: rs534332037
• gnomAD v2: 11-21564942-A-G
• gnomAD v3: 11-21543396-A-G
• gnomAD v4: 11-21543396-A-G
• MyVariant Identifiers: chr11:g.21564942A>G (hg19) ; chr11:g.21543396A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.21543396A>G , CM000673.2:g.21543396A>G	GRCh38
NC_000011.9:g.21564942A>G , CM000673.1:g.21564942A>G	GRCh37
NC_000011.8:g.21521518A>G	NCBI36
NG_047064.1:g.878846A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.1786+8882A>G MANE Select	ENSP00000349654.5:n.1786+8882A>G
ENST00000298925.9:c.1870+8882A>G	ENSP00000298925.5:n.1870+8882A>G
ENST00000325319.9:c.1615+8882A>G	ENSP00000317837.5:n.1615+8882A>G
ENST00000357134.9:c.1786+8882A>G	ENSP00000349654.5:n.1786+8882A>G
ENST00000529218.5:n.1140+8882A>G
ENST00000532434.5:c.1646-16793A>G	ENSP00000437170.1:n.1646-16793A>G
ENST00000619031.4:c.1066+8882A>G	ENSP00000479479.1:n.1066+8882A>G
NM_001288713.1:c.1870+8882A>G	NP_001275642.1:n.1870+8882A>G
NM_001288714.1:c.1615+8882A>G	NP_001275643.1:n.1615+8882A>G
NM_006157.4:c.1786+8882A>G	NP_006148.2:n.1786+8882A>G
NM_201551.2:c.1646-16793A>G	NP_963845.1:n.1646-16793A>G
XM_011520119.1:c.829+8882A>G	XP_011518421.1:n.829+8882A>G
NM_006157.5:c.1786+8882A>G MANE Select	NP_006148.2:n.1786+8882A>G