Canonical Allele Identifier: CA515715999
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30304615-A-G
MyVariant Identifiers: chrX:g.30322732A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304615A>G , CM000685.2:g.30304615A>G GRCh38
NC_000023.10:g.30322732A>G , CM000685.1:g.30322732A>G GRCh37
NC_000023.9:g.30232653A>G NCBI36
NG_009814.1:g.9764T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1377T>C MANE Select ENSP00000368253.4:p.Asp459=
ENST00000378970.4:c.1377T>C ENSP00000368253.4:p.Asp459=
NM_000475.4:c.1377T>C NP_000466.2:p.Asp459=
NM_000475.5:c.1377T>C MANE Select NP_000466.2:p.Asp459=