Canonical Allele Identifier: CA10376280
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2930922
ClinVar RCV Id: RCV003782184
dbSNP Id: rs776457322
ExAC: X:30322921 G / A
gnomAD v2: X-30322921-G-A
gnomAD v3: X-30304804-G-A
gnomAD v4: X-30304804-G-A
MyVariant Identifiers: chrX:g.30322921G>A (hg19) chrX:g.30304804G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304804G>A , CM000685.2:g.30304804G>A GRCh38
NC_000023.10:g.30322921G>A , CM000685.1:g.30322921G>A GRCh37
NC_000023.9:g.30232842G>A NCBI36
NG_009814.1:g.9575C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1188C>T MANE Select ENSP00000368253.4:p.Cys396=
ENST00000378970.4:c.1188C>T ENSP00000368253.4:p.Cys396=
NM_000475.4:c.1188C>T NP_000466.2:p.Cys396=
NM_000475.5:c.1188C>T MANE Select NP_000466.2:p.Cys396=
Search 100 bp 5'
Search 100 bp 3'