Canonical Allele Identifier: CA412545311
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30322862C>A (hg19) chrX:g.30304745C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304745C>A , CM000685.2:g.30304745C>A GRCh38
NC_000023.10:g.30322862C>A , CM000685.1:g.30322862C>A GRCh37
NC_000023.9:g.30232783C>A NCBI36
NG_009814.1:g.9634G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1247G>T MANE Select ENSP00000368253.4:p.Arg416Met
ENST00000378970.4:c.1247G>T ENSP00000368253.4:p.Arg416Met
NM_000475.4:c.1247G>T NP_000466.2:p.Arg416Met
NM_000475.5:c.1247G>T MANE Select NP_000466.2:p.Arg416Met
Search 100 bp 5'
Search 100 bp 3'