Canonical Allele Identifier: CA2693383141
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308156-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308156T>C , CM000685.2:g.30308156T>C GRCh38
NC_000023.10:g.30326273T>C , CM000685.1:g.30326273T>C GRCh37
NC_000023.9:g.30236194T>C NCBI36
NG_009814.1:g.6223A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1168+40A>G MANE Select ENSP00000368253.4:n.1168+40A>G
ENST00000378963.1:c.283+40A>G ENSP00000368246.1:n.283+40A>G
ENST00000378970.4:c.1168+40A>G ENSP00000368253.4:n.1168+40A>G
NM_000475.4:c.1168+40A>G NP_000466.2:n.1168+40A>G
NM_000475.5:c.1168+40A>G MANE Select NP_000466.2:n.1168+40A>G
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