Canonical Allele Identifier: CA10376306
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2198975
ClinVar RCV Id: RCV002634025
dbSNP Id: rs763718538
ExAC: X:30326303 G / C
gnomAD v2: X-30326303-G-C
gnomAD v3: X-30308186-G-C
gnomAD v4: X-30308186-G-C
MyVariant Identifiers: chrX:g.30326303G>C (hg19) chrX:g.30308186G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308186G>C , CM000685.2:g.30308186G>C GRCh38
NC_000023.10:g.30326303G>C , CM000685.1:g.30326303G>C GRCh37
NC_000023.9:g.30236224G>C NCBI36
NG_009814.1:g.6193C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1168+10C>G MANE Select ENSP00000368253.4:n.1168+10C>G
ENST00000378963.1:c.283+10C>G ENSP00000368246.1:n.283+10C>G
ENST00000378970.4:c.1168+10C>G ENSP00000368253.4:n.1168+10C>G
NM_000475.4:c.1168+10C>G NP_000466.2:n.1168+10C>G
NM_000475.5:c.1168+10C>G MANE Select NP_000466.2:n.1168+10C>G
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