Canonical Allele Identifier: CA10376402

Gene: NR0B1

Linked Data

• ClinVar Variation Id: 225425
• ClinVar RCV Id: RCV000490511 ; RCV000614813 ; RCV000864291 ; RCV001574018
• dbSNP Id: rs193205940
• ExAC: X:30327105 C / T
• gnomAD v2: X-30327105-C-T
• gnomAD v3: X-30308988-C-T
• gnomAD v4: X-30308988-C-T
• COSMIC: COSM4967870 ; COSM4967871
• MyVariant Identifiers: chrX:g.30327105C>T (hg19) ; chrX:g.30308988C>T (hg38)
• PubMed: PMID:9195207 ; PMID:23512386

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30308988C>T , CM000685.2:g.30308988C>T	GRCh38
NC_000023.10:g.30327105C>T , CM000685.1:g.30327105C>T	GRCh37
NC_000023.9:g.30237026C>T	NCBI36
NG_009814.1:g.5391G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000378970.5:c.376G>A MANE Select	ENSP00000368253.4:p.Val126Met
ENST00000378970.4:c.376G>A	ENSP00000368253.4:p.Val126Met
NM_000475.4:c.376G>A	NP_000466.2:p.Val126Met
NM_000475.5:c.376G>A MANE Select	NP_000466.2:p.Val126Met