Canonical Allele Identifier: CA117535
Gene: NR0B2 HGNC NCBI
NUDC HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.26913841G>A
GRCh37 chr1:g.27240332G>A
gnomAD v2:
1:27240332 G / A
gnomAD v3:
1:26913841 G / A
gnomAD v4:
chr1-26913841-G-A
Joint Max Group AF 0.00064967 (EAS)
Genomes Max Group AF 0.00006862 (EAS)
Exomes Max Group AF 0.00069249 (EAS)
ClinVar RCV:
RCV000005759
ClinVar Variation:
5426
dbSNP:
74315349
JSON-LD

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
Search 100 bp 5'
Search 100 bp 3'