Canonical Allele Identifier: CA515945882
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308317-G-A
MyVariant Identifiers: chrX:g.30326434G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308317G>A , CM000685.2:g.30308317G>A GRCh38
NC_000023.10:g.30326434G>A , CM000685.1:g.30326434G>A GRCh37
NC_000023.9:g.30236355G>A NCBI36
NG_009814.1:g.6062C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1047C>T MANE Select ENSP00000368253.4:p.Ala349=
ENST00000378963.1:c.162C>T ENSP00000368246.1:p.Ala54=
ENST00000378970.4:c.1047C>T ENSP00000368253.4:p.Ala349=
NM_000475.4:c.1047C>T NP_000466.2:p.Ala349=
NM_000475.5:c.1047C>T MANE Select NP_000466.2:p.Ala349=
Search 100 bp 5'
Search 100 bp 3'