Canonical Allele Identifier: CA412544395
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 591253
ClinVar RCV Id: RCV000722431
dbSNP Id: rs1569267996
MyVariant Identifiers: chrX:g.30322755T>A (hg19) chrX:g.30304638T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304638T>A , CM000685.2:g.30304638T>A GRCh38
NC_000023.10:g.30322755T>A , CM000685.1:g.30322755T>A GRCh37
NC_000023.9:g.30232676T>A NCBI36
NG_009814.1:g.9741A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1354A>T MANE Select ENSP00000368253.4:p.Ile452Phe
ENST00000378970.4:c.1354A>T ENSP00000368253.4:p.Ile452Phe
NM_000475.4:c.1354A>T NP_000466.2:p.Ile452Phe
NM_000475.5:c.1354A>T MANE Select NP_000466.2:p.Ile452Phe
Search 100 bp 5'
Search 100 bp 3'