Canonical Allele Identifier: CA515945887
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308320-C-T
MyVariant Identifiers: chrX:g.30326437C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308320C>T , CM000685.2:g.30308320C>T GRCh38
NC_000023.10:g.30326437C>T , CM000685.1:g.30326437C>T GRCh37
NC_000023.9:g.30236358C>T NCBI36
NG_009814.1:g.6059G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1044G>A MANE Select ENSP00000368253.4:p.Glu348=
ENST00000378963.1:c.159G>A ENSP00000368246.1:p.Glu53=
ENST00000378970.4:c.1044G>A ENSP00000368253.4:p.Glu348=
NM_000475.4:c.1044G>A NP_000466.2:p.Glu348=
NM_000475.5:c.1044G>A MANE Select NP_000466.2:p.Glu348=
Search 100 bp 5'
Search 100 bp 3'