Canonical Allele Identifier: CA327974048
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs779673698
gnomAD v3: X-30304574-T-A
gnomAD v4: X-30304574-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304574T>A , CM000685.2:g.30304574T>A GRCh38
NC_000023.10:g.30322691T>A , CM000685.1:g.30322691T>A GRCh37
NC_000023.9:g.30232612T>A NCBI36
NG_009814.1:g.9805A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.*5A>T MANE Select ENSP00000368253.4:n.*5A>T
ENST00000378970.4:c.*5A>T ENSP00000368253.4:n.*5A>T
NM_000475.4:c.*5A>T NP_000466.2:n.*5A>T
NM_000475.5:c.*5A>T MANE Select NP_000466.2:n.*5A>T