Canonical Allele Identifier: CA473461453

Gene: NELL1

Linked Data

• gnomAD v4: 11-20783750-T-C
• MyVariant Identifiers: chr11:g.20805296T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.20783750T>C , CM000673.2:g.20783750T>C	GRCh38
NC_000011.9:g.20805296T>C , CM000673.1:g.20805296T>C	GRCh37
NC_000011.8:g.20761872T>C	NCBI36
NG_047064.1:g.119200T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000357134.10:c.255T>C MANE Select	ENSP00000349654.5:p.Ser85=
ENST00000298925.9:c.339T>C	ENSP00000298925.5:p.Ser113=
ENST00000325319.9:c.255T>C	ENSP00000317837.5:p.Ser85=
ENST00000357134.9:c.255T>C	ENSP00000349654.5:p.Ser85=
ENST00000524738.1:n.82T>C
ENST00000527873.5:n.276T>C
ENST00000528046.5:n.438T>C
ENST00000529595.1:n.143T>C
ENST00000532434.5:c.255T>C	ENSP00000437170.1:p.Ser85=
ENST00000619031.4:c.-458T>C	ENSP00000479479.1:n.-458T>C
NM_001288713.1:c.339T>C	NP_001275642.1:p.Ser113=
NM_001288714.1:c.255T>C	NP_001275643.1:p.Ser85=
NM_006157.4:c.255T>C	NP_006148.2:p.Ser85=
NM_201551.2:c.255T>C	NP_963845.1:p.Ser85=
NM_006157.5:c.255T>C MANE Select	NP_006148.2:p.Ser85=