Canonical Allele Identifier: CA412547624
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 444079
ClinVar RCV Id: RCV000513603
dbSNP Id: rs1555973031
MyVariant Identifiers: chrX:g.30326637G>A (hg19) chrX:g.30308520G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308520G>A , CM000685.2:g.30308520G>A GRCh38
NC_000023.10:g.30326637G>A , CM000685.1:g.30326637G>A GRCh37
NC_000023.9:g.30236558G>A NCBI36
NG_009814.1:g.5859C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.844C>T MANE Select ENSP00000368253.4:p.Gln282Ter
ENST00000378970.4:c.844C>T ENSP00000368253.4:p.Gln282Ter
NM_000475.4:c.844C>T NP_000466.2:p.Gln282Ter
NM_000475.5:c.844C>T MANE Select NP_000466.2:p.Gln282Ter
Search 100 bp 5'
Search 100 bp 3'