Canonical Allele Identifier: CA412547833
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308565-G-A
COSMIC: COSM5137445
MyVariant Identifiers: chrX:g.30326682G>A (hg19) chrX:g.30308565G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308565G>A , CM000685.2:g.30308565G>A GRCh38
NC_000023.10:g.30326682G>A , CM000685.1:g.30326682G>A GRCh37
NC_000023.9:g.30236603G>A NCBI36
NG_009814.1:g.5814C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.799C>T MANE Select ENSP00000368253.4:p.Arg267Cys
ENST00000378970.4:c.799C>T ENSP00000368253.4:p.Arg267Cys
NM_000475.4:c.799C>T NP_000466.2:p.Arg267Cys
NM_000475.5:c.799C>T MANE Select NP_000466.2:p.Arg267Cys
Search 100 bp 5'
Search 100 bp 3'