Canonical Allele Identifier: CA709710

Gene: NR0B2 NUDC

Linked Data

• ClinVar Variation Id: 449569
• ClinVar RCV Id: RCV000523542 ; RCV003419905
• dbSNP Id: rs113654931
• ExAC: 1:27240272 G / A
• gnomAD v2: 1-27240272-G-A
• gnomAD v3: 1-26913781-G-A
• gnomAD v4: 1-26913781-G-A
• MyVariant Identifiers: chr1:g.27240272G>A (hg19) ; chr1:g.26913781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26913781G>A , CM000663.2:g.26913781G>A	GRCh38
NC_000001.10:g.27240272G>A , CM000663.1:g.27240272G>A	GRCh37
NC_000001.9:g.27112859G>A	NCBI36
NG_012143.1:g.5296C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254227.4:c.160C>T (NR0B2) MANE Select	ENSP00000254227.3:p.Arg54Cys
ENST00000254227.3:c.160C>T (NR0B2)	ENSP00000254227.3:p.Arg54Cys
ENST00000435827.6:c.93+2546G>A (NUDC)	ENSP00000404020.2:n.93+2546G>A
NM_021969.2:c.160C>T (NR0B2)	NP_068804.1:p.Arg54Cys
XM_011540529.1:c.93+2546G>A (NUDC)	XP_011538831.1:n.93+2546G>A
XM_011542297.1:c.160C>T (NR0B2)	XP_011540599.1:p.Arg54Cys
XM_011542297.3:c.160C>T (NR0B2)	XP_011540599.1:p.Arg54Cys
XM_017000094.1:c.93+2546G>A (NUDC)	XP_016855583.1:n.93+2546G>A
XM_024452486.1:c.93+2546G>A (NUDC)	XP_024308254.1:n.93+2546G>A
NM_021969.3:c.160C>T (NR0B2) MANE Select	NP_068804.1:p.Arg54Cys