Canonical Allele Identifier: CA874616083
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs1429614404
gnomAD v3: X-30308374-GC-G
gnomAD v4: X-30308374-GC-G
MyVariant Identifiers: chrX:g.30326492del (hg19) chrX:g.30308375del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308379del , CM000685.2:g.30308379del GRCh38
NC_000023.10:g.30326496del , CM000685.1:g.30326496del GRCh37
NC_000023.9:g.30236417del NCBI36
NG_009814.1:g.6004del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.989del MANE Select ENSP00000368253.4:p.Gly330AlafsTer?
ENST00000378963.1:c.104del ENSP00000368246.1:p.Gly35AlafsTer?
ENST00000378970.4:c.989del ENSP00000368253.4:p.Gly330AlafsTer?
NM_000475.4:c.989del NP_000466.2:p.Gly330AlafsTer?
NM_000475.5:c.989del MANE Select NP_000466.2:p.Gly330AlafsTer?
Search 100 bp 5'
Search 100 bp 3'