Canonical Allele Identifier: CA2693382723
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30304549-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304549C>A , CM000685.2:g.30304549C>A GRCh38
NC_000023.10:g.30322666C>A , CM000685.1:g.30322666C>A GRCh37
NC_000023.9:g.30232587C>A NCBI36
NG_009814.1:g.9830G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.*30G>T MANE Select ENSP00000368253.4:n.*30G>T
ENST00000378970.4:c.*30G>T ENSP00000368253.4:n.*30G>T
NM_000475.4:c.*30G>T NP_000466.2:n.*30G>T
NM_000475.5:c.*30G>T MANE Select NP_000466.2:n.*30G>T