Canonical Allele Identifier: CA412548049
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 429744
ClinVar RCV Id: RCV000493558 RCV000584087 RCV000763207
dbSNP Id: rs1131691564
MyVariant Identifiers: chrX:g.30326773C>T (hg19) chrX:g.30308656C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308656C>T , CM000685.2:g.30308656C>T GRCh38
NC_000023.10:g.30326773C>T , CM000685.1:g.30326773C>T GRCh37
NC_000023.9:g.30236694C>T NCBI36
NG_009814.1:g.5723G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.708G>A MANE Select ENSP00000368253.4:p.Trp236Ter
ENST00000378970.4:c.708G>A ENSP00000368253.4:p.Trp236Ter
NM_000475.4:c.708G>A NP_000466.2:p.Trp236Ter
NM_000475.5:c.708G>A MANE Select NP_000466.2:p.Trp236Ter
Search 100 bp 5'
Search 100 bp 3'