Canonical Allele Identifier: CA16609844
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 403723
ClinVar RCV Id: RCV000462560
dbSNP Id: rs1060499835
MyVariant Identifiers: chrX:g.30326633T>G (hg19) chrX:g.30308516T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308516T>G , CM000685.2:g.30308516T>G GRCh38
NC_000023.10:g.30326633T>G , CM000685.1:g.30326633T>G GRCh37
NC_000023.9:g.30236554T>G NCBI36
NG_009814.1:g.5863A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.848A>C MANE Select ENSP00000368253.4:p.Gln283Pro
ENST00000378970.4:c.848A>C ENSP00000368253.4:p.Gln283Pro
NM_000475.4:c.848A>C NP_000466.2:p.Gln283Pro
NM_000475.5:c.848A>C MANE Select NP_000466.2:p.Gln283Pro
Search 100 bp 5'
Search 100 bp 3'