Canonical Allele Identifier: CA2579577196
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308123-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308123G>T , CM000685.2:g.30308123G>T GRCh38
NC_000023.10:g.30326240G>T , CM000685.1:g.30326240G>T GRCh37
NC_000023.9:g.30236161G>T NCBI36
NG_009814.1:g.6256C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1168+73C>A MANE Select ENSP00000368253.4:n.1168+73C>A
ENST00000378963.1:c.283+73C>A ENSP00000368246.1:n.283+73C>A
ENST00000378970.4:c.1168+73C>A ENSP00000368253.4:n.1168+73C>A
NM_000475.4:c.1168+73C>A NP_000466.2:n.1168+73C>A
NM_000475.5:c.1168+73C>A MANE Select NP_000466.2:n.1168+73C>A
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