Canonical Allele Identifier: CA117537
Gene: NR0B2 HGNC NCBI
NUDC HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.26912036C>A
GRCh37 chr1:g.27238527C>A
Revel Score:
ENST00000254227 (MANE Select) 0.886
gnomAD v3:
1:26912036 C / A
gnomAD v4:
chr1-26912036-C-A
Joint Max Group AF 0.00102527 (EAS)
Genomes Max Group AF 0.00006804 (EAS)
Exomes Max Group AF 0.00111463 (EAS)
ClinVar RCV:
RCV000005760
RCV002247254
ClinVar Variation:
5427
dbSNP:
74315350
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.26912036C>A , CM000663.2:g.26912036C>A GRCh38
NC_000001.10:g.27238527C>A , CM000663.1:g.27238527C>A GRCh37
NC_000001.9:g.27111114C>A NCBI36
NG_012143.1:g.7041G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000254227.4:c.583G>T (NR0B2) MANE Select ENSP00000254227.3:p.Ala195Ser
ENST00000254227.3:c.583G>T (NR0B2) ENSP00000254227.3:p.Ala195Ser
ENST00000435827.6:c.93+801C>A (NUDC) ENSP00000404020.2:n.93+801C>A
NM_021969.2:c.583G>T (NR0B2) NP_068804.1:p.Ala195Ser
XM_011540529.1:c.93+801C>A (NUDC) XP_011538831.1:n.93+801C>A
XM_017000094.1:c.93+801C>A (NUDC) XP_016855583.1:n.93+801C>A
XM_024452486.1:c.93+801C>A (NUDC) XP_024308254.1:n.93+801C>A
NM_021969.3:c.583G>T (NR0B2) MANE Select NP_068804.1:p.Ala195Ser
Search 100 bp 5'
Search 100 bp 3'