Canonical Allele Identifier: CA597950431

Gene: NELL1

Linked Data

• dbSNP Id: rs1329923362
• gnomAD v2: 11-20805748-G-T
• gnomAD v3: 11-20784202-G-T
• gnomAD v4: 11-20784202-G-T
• MyVariant Identifiers: chr11:g.20805748G>T (hg19) ; chr11:g.20784202G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20784202G>T , CM000673.2:g.20784202G>T	GRCh38
NC_000011.9:g.20805748G>T , CM000673.1:g.20805748G>T	GRCh37
NC_000011.8:g.20762324G>T	NCBI36
NG_047064.1:g.119652G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357134.10:c.335+372G>T MANE Select	ENSP00000349654.5:n.335+372G>T
ENST00000298925.9:c.419+372G>T	ENSP00000298925.5:n.419+372G>T
ENST00000325319.9:c.335+372G>T	ENSP00000317837.5:n.335+372G>T
ENST00000357134.9:c.335+372G>T	ENSP00000349654.5:n.335+372G>T
ENST00000524738.1:n.162+372G>T
ENST00000527873.5:n.356+372G>T
ENST00000528046.5:n.518+372G>T
ENST00000529595.1:n.223+372G>T
ENST00000532434.5:c.335+372G>T	ENSP00000437170.1:n.335+372G>T
ENST00000619031.4:c.-378+372G>T	ENSP00000479479.1:n.-378+372G>T
NM_001288713.1:c.419+372G>T	NP_001275642.1:n.419+372G>T
NM_001288714.1:c.335+372G>T	NP_001275643.1:n.335+372G>T
NM_006157.4:c.335+372G>T	NP_006148.2:n.335+372G>T
NM_201551.2:c.335+372G>T	NP_963845.1:n.335+372G>T
NM_006157.5:c.335+372G>T MANE Select	NP_006148.2:n.335+372G>T