Canonical Allele Identifier: CA412544426
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 492858
ClinVar RCV Id: RCV000583254
dbSNP Id: rs1555972641
MyVariant Identifiers: chrX:g.30322769A>G (hg19) chrX:g.30304652A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304652A>G , CM000685.2:g.30304652A>G GRCh38
NC_000023.10:g.30322769A>G , CM000685.1:g.30322769A>G GRCh37
NC_000023.9:g.30232690A>G NCBI36
NG_009814.1:g.9727T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1340T>C MANE Select ENSP00000368253.4:p.Leu447Pro
ENST00000378970.4:c.1340T>C ENSP00000368253.4:p.Leu447Pro
NM_000475.4:c.1340T>C NP_000466.2:p.Leu447Pro
NM_000475.5:c.1340T>C MANE Select NP_000466.2:p.Leu447Pro
Search 100 bp 5'
Search 100 bp 3'