Canonical Allele Identifier: CA2693382705
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30304503-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304503A>G , CM000685.2:g.30304503A>G GRCh38
NC_000023.10:g.30322620A>G , CM000685.1:g.30322620A>G GRCh37
NC_000023.9:g.30232541A>G NCBI36
NG_009814.1:g.9876T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.*76T>C MANE Select ENSP00000368253.4:n.*76T>C
ENST00000378970.4:c.*76T>C ENSP00000368253.4:n.*76T>C
NM_000475.4:c.*76T>C NP_000466.2:n.*76T>C
NM_000475.5:c.*76T>C MANE Select NP_000466.2:n.*76T>C