Canonical Allele Identifier: CA412544396

Gene: NR0B1

Linked Data

• ClinVar Variation Id: 2935250
• ClinVar RCV Id: RCV003790904
• gnomAD v4: X-30304638-T-C
• MyVariant Identifiers: chrX:g.30322755T>C (hg19) ; chrX:g.30304638T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30304638T>C , CM000685.2:g.30304638T>C	GRCh38
NC_000023.10:g.30322755T>C , CM000685.1:g.30322755T>C	GRCh37
NC_000023.9:g.30232676T>C	NCBI36
NG_009814.1:g.9741A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.1354A>G MANE Select	ENSP00000368253.4:p.Ile452Val
ENST00000378970.4:c.1354A>G	ENSP00000368253.4:p.Ile452Val
NM_000475.4:c.1354A>G	NP_000466.2:p.Ile452Val
NM_000475.5:c.1354A>G MANE Select	NP_000466.2:p.Ile452Val