Canonical Allele Identifier: CA5921944

Gene: NELL1

Linked Data

• dbSNP Id: rs749827232
• ExAC: 11:20805427 T / C
• gnomAD v2: 11-20805427-T-C
• gnomAD v3: 11-20783881-T-C
• gnomAD v4: 11-20783881-T-C
• MyVariant Identifiers: chr11:g.20805427T>C (hg19) ; chr11:g.20783881T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783881T>C , CM000673.2:g.20783881T>C	GRCh38
NC_000011.9:g.20805427T>C , CM000673.1:g.20805427T>C	GRCh37
NC_000011.8:g.20762003T>C	NCBI36
NG_047064.1:g.119331T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.335+51T>C MANE Select	ENSP00000349654.5:n.335+51T>C
ENST00000298925.9:c.419+51T>C	ENSP00000298925.5:n.419+51T>C
ENST00000325319.9:c.335+51T>C	ENSP00000317837.5:n.335+51T>C
ENST00000357134.9:c.335+51T>C	ENSP00000349654.5:n.335+51T>C
ENST00000524738.1:n.162+51T>C
ENST00000527873.5:n.356+51T>C
ENST00000528046.5:n.518+51T>C
ENST00000529595.1:n.223+51T>C
ENST00000532434.5:c.335+51T>C	ENSP00000437170.1:n.335+51T>C
ENST00000619031.4:c.-378+51T>C	ENSP00000479479.1:n.-378+51T>C
NM_001288713.1:c.419+51T>C	NP_001275642.1:n.419+51T>C
NM_001288714.1:c.335+51T>C	NP_001275643.1:n.335+51T>C
NM_006157.4:c.335+51T>C	NP_006148.2:n.335+51T>C
NM_201551.2:c.335+51T>C	NP_963845.1:n.335+51T>C
NM_006157.5:c.335+51T>C MANE Select	NP_006148.2:n.335+51T>C