Canonical Allele Identifier: CA380052499

Gene: NELL1

Linked Data

• dbSNP Id: rs1431850331
• gnomAD v2: 11-20805294-A-G
• gnomAD v3: 11-20783748-A-G
• gnomAD v4: 11-20783748-A-G
• MyVariant Identifiers: chr11:g.20805294A>G (hg19) ; chr11:g.20783748A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783748A>G , CM000673.2:g.20783748A>G	GRCh38
NC_000011.9:g.20805294A>G , CM000673.1:g.20805294A>G	GRCh37
NC_000011.8:g.20761870A>G	NCBI36
NG_047064.1:g.119198A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000357134.10:c.253A>G MANE Select	ENSP00000349654.5:p.Ser85Gly
ENST00000298925.9:c.337A>G	ENSP00000298925.5:p.Ser113Gly
ENST00000325319.9:c.253A>G	ENSP00000317837.5:p.Ser85Gly
ENST00000357134.9:c.253A>G	ENSP00000349654.5:p.Ser85Gly
ENST00000524738.1:n.80A>G
ENST00000527873.5:n.274A>G
ENST00000528046.5:n.436A>G
ENST00000529595.1:n.141A>G
ENST00000532434.5:c.253A>G	ENSP00000437170.1:p.Ser85Gly
ENST00000619031.4:c.-460A>G	ENSP00000479479.1:n.-460A>G
NM_001288713.1:c.337A>G	NP_001275642.1:p.Ser113Gly
NM_001288714.1:c.253A>G	NP_001275643.1:p.Ser85Gly
NM_006157.4:c.253A>G	NP_006148.2:p.Ser85Gly
NM_201551.2:c.253A>G	NP_963845.1:p.Ser85Gly
NM_006157.5:c.253A>G MANE Select	NP_006148.2:p.Ser85Gly