Canonical Allele Identifier: CA205875

Gene: NR0B2 NUDC

Linked Data

• ClinVar Variation Id: 211685
• ClinVar RCV Id: RCV000192799 ; RCV003977518
• dbSNP Id: rs201991593
• ExAC: 1:27239900 C / T
• gnomAD v2: 1-27239900-C-T
• gnomAD v3: 1-26913409-C-T
• gnomAD v4: 1-26913409-C-T
• MyVariant Identifiers: chr1:g.27239900C>T (hg19) ; chr1:g.27239900_27239901delinsTG (hg19) ; chr1:g.26913409C>T (hg38) ; chr1:g.26913409_26913410delinsTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.26913409C>T , CM000663.2:g.26913409C>T	GRCh38
NC_000001.10:g.27239900C>T , CM000663.1:g.27239900C>T	GRCh37
NC_000001.9:g.27112487C>T	NCBI36
NG_012143.1:g.5668G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000254227.4:c.532G>A (NR0B2) MANE Select	ENSP00000254227.3:p.Asp178Asn
ENST00000254227.3:c.532G>A (NR0B2)	ENSP00000254227.3:p.Asp178Asn
ENST00000435827.6:c.93+2174C>T (NUDC)	ENSP00000404020.2:n.93+2174C>T
NM_021969.2:c.532G>A (NR0B2)	NP_068804.1:p.Asp178Asn
XM_011540529.1:c.93+2174C>T (NUDC)	XP_011538831.1:n.93+2174C>T
XM_011542297.1:c.532G>A (NR0B2)	XP_011540599.1:p.Asp178Asn
XM_011542297.3:c.532G>A (NR0B2)	XP_011540599.1:p.Asp178Asn
XM_017000094.1:c.93+2174C>T (NUDC)	XP_016855583.1:n.93+2174C>T
XM_024452486.1:c.93+2174C>T (NUDC)	XP_024308254.1:n.93+2174C>T
NM_021969.3:c.532G>A (NR0B2) MANE Select	NP_068804.1:p.Asp178Asn