Canonical Allele Identifier: CA255634
Gene: NR0B1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.30308491C>G
GRCh37 chrX:g.30326608C>G
Revel Score:
ENST00000378970 (MANE Select) 0.925
ENST00000453287 0.925
ClinVar Allele:
26004
ClinVar RCV:
RCV000011712
ClinVar Variation:
10965
dbSNP:
28935482
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308491C>G , CM000685.2:g.30308491C>G GRCh38
NC_000023.10:g.30326608C>G , CM000685.1:g.30326608C>G GRCh37
NC_000023.9:g.30236529C>G NCBI36
NG_009814.1:g.5888G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.873G>C MANE Select ENSP00000368253.4:p.Trp291Cys
ENST00000378970.4:c.873G>C ENSP00000368253.4:p.Trp291Cys
NM_000475.4:c.873G>C NP_000466.2:p.Trp291Cys
NM_000475.5:c.873G>C MANE Select NP_000466.2:p.Trp291Cys
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