Canonical Allele Identifier: CA515716634
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2942663
ClinVar RCV Id: RCV003807829
MyVariant Identifiers: chrX:g.30322861C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304744C>T , CM000685.2:g.30304744C>T GRCh38
NC_000023.10:g.30322861C>T , CM000685.1:g.30322861C>T GRCh37
NC_000023.9:g.30232782C>T NCBI36
NG_009814.1:g.9635G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1248G>A MANE Select ENSP00000368253.4:p.Arg416=
ENST00000378970.4:c.1248G>A ENSP00000368253.4:p.Arg416=
NM_000475.4:c.1248G>A NP_000466.2:p.Arg416=
NM_000475.5:c.1248G>A MANE Select NP_000466.2:p.Arg416=
Search 100 bp 5'
Search 100 bp 3'