Canonical Allele Identifier: CA515946366
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs2147006517
gnomAD v4: X-30308524-C-T
MyVariant Identifiers: chrX:g.30326641C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308524C>T , CM000685.2:g.30308524C>T GRCh38
NC_000023.10:g.30326641C>T , CM000685.1:g.30326641C>T GRCh37
NC_000023.9:g.30236562C>T NCBI36
NG_009814.1:g.5855G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.840G>A MANE Select ENSP00000368253.4:p.Leu280=
ENST00000378970.4:c.840G>A ENSP00000368253.4:p.Leu280=
NM_000475.4:c.840G>A NP_000466.2:p.Leu280=
NM_000475.5:c.840G>A MANE Select NP_000466.2:p.Leu280=
Search 100 bp 5'
Search 100 bp 3'