Canonical Allele Identifier: CA640974698
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs1219408919
gnomAD v2: X-30322845-GC-G
MyVariant Identifiers: chrX:g.30322846del (hg19) chrX:g.30304729del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304731del , CM000685.2:g.30304731del GRCh38
NC_000023.10:g.30322848del , CM000685.1:g.30322848del GRCh37
NC_000023.9:g.30232769del NCBI36
NG_009814.1:g.9650del

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1263del MANE Select ENSP00000368253.4:p.His423MetfsTer14
ENST00000378970.4:c.1263del ENSP00000368253.4:p.His423MetfsTer14
NM_000475.4:c.1263del NP_000466.2:p.His423MetfsTer14
NM_000475.5:c.1263del MANE Select NP_000466.2:p.His423MetfsTer14
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