Canonical Allele Identifier: CA874614590

Gene: NR0B1

Linked Data

• dbSNP Id: rs1351831448
• gnomAD v3: X-30304566-G-A
• gnomAD v4: X-30304566-G-A
• MyVariant Identifiers: chrX:g.30322683G>A (hg19) ; chrX:g.30304566G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30304566G>A , CM000685.2:g.30304566G>A	GRCh38
NC_000023.10:g.30322683G>A , CM000685.1:g.30322683G>A	GRCh37
NC_000023.9:g.30232604G>A	NCBI36
NG_009814.1:g.9813C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.*13C>T MANE Select	ENSP00000368253.4:n.*13C>T
ENST00000378970.4:c.*13C>T	ENSP00000368253.4:n.*13C>T
NM_000475.4:c.*13C>T	NP_000466.2:n.*13C>T
NM_000475.5:c.*13C>T MANE Select	NP_000466.2:n.*13C>T