Canonical Allele Identifier: CA412545759
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs1926491955
gnomAD v4: X-30304821-C-T
MyVariant Identifiers: chrX:g.30322938C>T (hg19) chrX:g.30304821C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304821C>T , CM000685.2:g.30304821C>T GRCh38
NC_000023.10:g.30322938C>T , CM000685.1:g.30322938C>T GRCh37
NC_000023.9:g.30232859C>T NCBI36
NG_009814.1:g.9558G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1171G>A MANE Select ENSP00000368253.4:p.Val391Met
ENST00000378970.4:c.1171G>A ENSP00000368253.4:p.Val391Met
NM_000475.4:c.1171G>A NP_000466.2:p.Val391Met
NM_000475.5:c.1171G>A MANE Select NP_000466.2:p.Val391Met
Search 100 bp 5'
Search 100 bp 3'