Canonical Allele Identifier: CA2693382727
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30304556-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304556G>T , CM000685.2:g.30304556G>T GRCh38
NC_000023.10:g.30322673G>T , CM000685.1:g.30322673G>T GRCh37
NC_000023.9:g.30232594G>T NCBI36
NG_009814.1:g.9823C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.*23C>A MANE Select ENSP00000368253.4:n.*23C>A
ENST00000378970.4:c.*23C>A ENSP00000368253.4:n.*23C>A
NM_000475.4:c.*23C>A NP_000466.2:n.*23C>A
NM_000475.5:c.*23C>A MANE Select NP_000466.2:n.*23C>A