Canonical Allele Identifier: CA10376256
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 436028
ClinVar RCV Id: RCV000504078 RCV003766832 RCV004535605
dbSNP Id: rs572970359
ExAC: X:30322744 T / C
gnomAD v2: X-30322744-T-C
gnomAD v3: X-30304627-T-C
gnomAD v4: X-30304627-T-C
MyVariant Identifiers: chrX:g.30322744T>C (hg19) chrX:g.30304627T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304627T>C , CM000685.2:g.30304627T>C GRCh38
NC_000023.10:g.30322744T>C , CM000685.1:g.30322744T>C GRCh37
NC_000023.9:g.30232665T>C NCBI36
NG_009814.1:g.9752A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1365A>G MANE Select ENSP00000368253.4:p.Thr455=
ENST00000378970.4:c.1365A>G ENSP00000368253.4:p.Thr455=
NM_000475.4:c.1365A>G NP_000466.2:p.Thr455=
NM_000475.5:c.1365A>G MANE Select NP_000466.2:p.Thr455=
Search 100 bp 5'
Search 100 bp 3'