Canonical Allele Identifier: CA117535

Gene: NR0B2 NUDC

Linked Data

• ClinVar Variation Id: 5426
• ClinVar RCV Id: RCV000005759
• dbSNP Id: rs74315349
• ExAC: 1:27240332 G / A
• gnomAD v2: 1-27240332-G-A
• gnomAD v3: 1-26913841-G-A
• gnomAD v4: 1-26913841-G-A
• MyVariant Identifiers: chr1:g.27240332G>A (hg19) ; chr1:g.26913841G>A (hg38)
• PubMed: PMID:11136233

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26913841G>A , CM000663.2:g.26913841G>A	GRCh38
NC_000001.10:g.27240332G>A , CM000663.1:g.27240332G>A	GRCh37
NC_000001.9:g.27112919G>A	NCBI36
NG_012143.1:g.5236C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254227.4:c.100C>T (NR0B2) MANE Select	ENSP00000254227.3:p.Arg34Ter
ENST00000254227.3:c.100C>T (NR0B2)	ENSP00000254227.3:p.Arg34Ter
ENST00000435827.6:c.93+2606G>A (NUDC)	ENSP00000404020.2:n.93+2606G>A
NM_021969.2:c.100C>T (NR0B2)	NP_068804.1:p.Arg34Ter
XM_011540529.1:c.93+2606G>A (NUDC)	XP_011538831.1:n.93+2606G>A
XM_011542297.1:c.100C>T (NR0B2)	XP_011540599.1:p.Arg34Ter
XM_011542297.3:c.100C>T (NR0B2)	XP_011540599.1:p.Arg34Ter
XM_017000094.1:c.93+2606G>A (NUDC)	XP_016855583.1:n.93+2606G>A
XM_024452486.1:c.93+2606G>A (NUDC)	XP_024308254.1:n.93+2606G>A
NM_021969.3:c.100C>T (NR0B2) MANE Select	NP_068804.1:p.Arg34Ter