Canonical Allele Identifier: CA2693382719
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30304532-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304532T>C , CM000685.2:g.30304532T>C GRCh38
NC_000023.10:g.30322649T>C , CM000685.1:g.30322649T>C GRCh37
NC_000023.9:g.30232570T>C NCBI36
NG_009814.1:g.9847A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.*47A>G MANE Select ENSP00000368253.4:n.*47A>G
ENST00000378970.4:c.*47A>G ENSP00000368253.4:n.*47A>G
NM_000475.4:c.*47A>G NP_000466.2:n.*47A>G
NM_000475.5:c.*47A>G MANE Select NP_000466.2:n.*47A>G
Search 100 bp 5'
Search 100 bp 3'