Canonical Allele Identifier: CA10376316

Gene: NR0B1

Linked Data

• ClinVar Variation Id: 2184211
• ClinVar RCV Id: RCV002615735
• dbSNP Id: rs201996833
• ExAC: X:30326441 G / T
• gnomAD v2: X-30326441-G-T
• gnomAD v3: X-30308324-G-T
• gnomAD v4: X-30308324-G-T
• MyVariant Identifiers: chrX:g.30326441G>T (hg19) ; chrX:g.30308324G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30308324G>T , CM000685.2:g.30308324G>T	GRCh38
NC_000023.10:g.30326441G>T , CM000685.1:g.30326441G>T	GRCh37
NC_000023.9:g.30236362G>T	NCBI36
NG_009814.1:g.6055C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.1040C>A MANE Select	ENSP00000368253.4:p.Ala347Glu
ENST00000378963.1:c.155C>A	ENSP00000368246.1:p.Ala52Glu
ENST00000378970.4:c.1040C>A	ENSP00000368253.4:p.Ala347Glu
NM_000475.4:c.1040C>A	NP_000466.2:p.Ala347Glu
NM_000475.5:c.1040C>A MANE Select	NP_000466.2:p.Ala347Glu