Canonical Allele Identifier: CA327975933
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1990828
ClinVar RCV Id: RCV002805872
dbSNP Id: rs377428336
gnomAD v2: X-30326542-C-G
gnomAD v4: X-30308425-C-G
MyVariant Identifiers: chrX:g.30326542C>G (hg19) chrX:g.30308425C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308425C>G , CM000685.2:g.30308425C>G GRCh38
NC_000023.10:g.30326542C>G , CM000685.1:g.30326542C>G GRCh37
NC_000023.9:g.30236463C>G NCBI36
NG_009814.1:g.5954G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.939G>C MANE Select ENSP00000368253.4:p.Glu313Asp
ENST00000378963.1:c.54G>C ENSP00000368246.1:p.Glu18Asp
ENST00000378970.4:c.939G>C ENSP00000368253.4:p.Glu313Asp
NM_000475.4:c.939G>C NP_000466.2:p.Glu313Asp
NM_000475.5:c.939G>C MANE Select NP_000466.2:p.Glu313Asp
Search 100 bp 5'
Search 100 bp 3'