Canonical Allele Identifier: CA515716575
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2929266
ClinVar RCV Id: RCV003781992
dbSNP Id: rs1926489705
MyVariant Identifiers: chrX:g.30322852G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304735G>A , CM000685.2:g.30304735G>A GRCh38
NC_000023.10:g.30322852G>A , CM000685.1:g.30322852G>A GRCh37
NC_000023.9:g.30232773G>A NCBI36
NG_009814.1:g.9644C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1257C>T MANE Select ENSP00000368253.4:p.His419=
ENST00000378970.4:c.1257C>T ENSP00000368253.4:p.His419=
NM_000475.4:c.1257C>T NP_000466.2:p.His419=
NM_000475.5:c.1257C>T MANE Select NP_000466.2:p.His419=
Search 100 bp 5'
Search 100 bp 3'