Canonical Allele Identifier: CA2693383134
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308143-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308143C>G , CM000685.2:g.30308143C>G GRCh38
NC_000023.10:g.30326260C>G , CM000685.1:g.30326260C>G GRCh37
NC_000023.9:g.30236181C>G NCBI36
NG_009814.1:g.6236G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1168+53G>C MANE Select ENSP00000368253.4:n.1168+53G>C
ENST00000378963.1:c.283+53G>C ENSP00000368246.1:n.283+53G>C
ENST00000378970.4:c.1168+53G>C ENSP00000368253.4:n.1168+53G>C
NM_000475.4:c.1168+53G>C NP_000466.2:n.1168+53G>C
NM_000475.5:c.1168+53G>C MANE Select NP_000466.2:n.1168+53G>C
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