Canonical Allele Identifier: CA515945993
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs1926565447
gnomAD v4: X-30308368-C-T
MyVariant Identifiers: chrX:g.30326485C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308368C>T , CM000685.2:g.30308368C>T GRCh38
NC_000023.10:g.30326485C>T , CM000685.1:g.30326485C>T GRCh37
NC_000023.9:g.30236406C>T NCBI36
NG_009814.1:g.6011G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.996G>A MANE Select ENSP00000368253.4:p.Glu332=
ENST00000378963.1:c.111G>A ENSP00000368246.1:p.Glu37=
ENST00000378970.4:c.996G>A ENSP00000368253.4:p.Glu332=
NM_000475.4:c.996G>A NP_000466.2:p.Glu332=
NM_000475.5:c.996G>A MANE Select NP_000466.2:p.Glu332=
Search 100 bp 5'
Search 100 bp 3'