Canonical Allele Identifier: CA874614573

Gene: NR0B1

Linked Data

• dbSNP Id: rs1457784674
• gnomAD v3: X-30304479-A-G
• gnomAD v4: X-30304479-A-G
• MyVariant Identifiers: chrX:g.30322596A>G (hg19) ; chrX:g.30304479A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30304479A>G , CM000685.2:g.30304479A>G	GRCh38
NC_000023.10:g.30322596A>G , CM000685.1:g.30322596A>G	GRCh37
NC_000023.9:g.30232517A>G	NCBI36
NG_009814.1:g.9900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.*100T>C MANE Select	ENSP00000368253.4:n.*100T>C
ENST00000378970.4:c.*100T>C	ENSP00000368253.4:n.*100T>C
NM_000475.4:c.*100T>C	NP_000466.2:n.*100T>C
NM_000475.5:c.*100T>C MANE Select	NP_000466.2:n.*100T>C