Canonical Allele Identifier: CA218987235

Gene: NELL1

Identifiers and link-outs to other resources

• dbSNP Id: rs12279250
• gnomAD: 11:21565079 T / C
• MyVariant Identifiers: chr11:g.21565079T>C (hg19) ; chr11:g.21543533T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.21543533T>C , CM000673.2:g.21543533T>C	GRCh38
NC_000011.9:g.21565079T>C , CM000673.1:g.21565079T>C	GRCh37
NC_000011.8:g.21521655T>C	NCBI36
NG_047064.1:g.878983T>C

Transcript Alleles

HGVS	Amino-acid change
NM_001288713.1:c.1870+9019T>C VV	NP_001275642.1:p.=
NM_001288714.1:c.1615+9019T>C VV	NP_001275643.1:p.=
NM_006157.4:c.1786+9019T>C VV	NP_006148.2:p.=
NM_201551.2:c.1646-16656T>C VV	NP_963845.1:p.=
XM_011520119.1:c.829+9019T>C	XP_011518421.1:p.=
NM_006157.5:c.1786+9019T>C VV MANE Preferred	NP_006148.2:p.=
ENST00000298925.9:c.1870+9019T>C	ENSP00000298925.5:p.=
ENST00000325319.9:c.1615+9019T>C	ENSP00000317837.5:p.=
ENST00000357134.9:c.1786+9019T>C	ENSP00000349654.5:p.=
ENST00000529218.5:n.1140+9019T>C
ENST00000532434.5:c.1646-16656T>C	ENSP00000437170.1:p.=
ENST00000619031.4:c.1066+9019T>C	ENSP00000479479.1:p.=