Canonical Allele Identifier: CA515946365
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308524-C-G
MyVariant Identifiers: chrX:g.30326641C>G (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.840G>C MANE Select ENSP00000368253.4:p.Leu280=
ENST00000378970.4:c.840G>C ENSP00000368253.4:p.Leu280=
NM_000475.4:c.840G>C NP_000466.2:p.Leu280=
NM_000475.5:c.840G>C MANE Select NP_000466.2:p.Leu280=