Canonical Allele Identifier: CA10376270

Gene: NR0B1

Linked Data

• ClinVar Variation Id: 2934022
• ClinVar RCV Id: RCV003795772
• dbSNP Id: rs776527316
• ExAC: X:30322855 C / T
• gnomAD v4: X-30304738-C-T
• COSMIC: COSM5485153
• MyVariant Identifiers: chrX:g.30322855C>T (hg19) ; chrX:g.30304738C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30304738C>T , CM000685.2:g.30304738C>T	GRCh38
NC_000023.10:g.30322855C>T , CM000685.1:g.30322855C>T	GRCh37
NC_000023.9:g.30232776C>T	NCBI36
NG_009814.1:g.9641G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.1254G>A MANE Select	ENSP00000368253.4:p.Thr418=
ENST00000378970.4:c.1254G>A	ENSP00000368253.4:p.Thr418=
NM_000475.4:c.1254G>A	NP_000466.2:p.Thr418=
NM_000475.5:c.1254G>A MANE Select	NP_000466.2:p.Thr418=