Canonical Allele Identifier: CA327974023

Gene: NR0B1

Linked Data

• dbSNP Id: rs940899112
• gnomAD v3: X-30304492-T-G
• gnomAD v4: X-30304492-T-G
• MyVariant Identifiers: chrX:g.30322609T>G (hg19) ; chrX:g.30304492T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30304492T>G , CM000685.2:g.30304492T>G	GRCh38
NC_000023.10:g.30322609T>G , CM000685.1:g.30322609T>G	GRCh37
NC_000023.9:g.30232530T>G	NCBI36
NG_009814.1:g.9887A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.*87A>C MANE Select	ENSP00000368253.4:n.*87A>C
ENST00000378970.4:c.*87A>C	ENSP00000368253.4:n.*87A>C
NM_000475.4:c.*87A>C	NP_000466.2:n.*87A>C
NM_000475.5:c.*87A>C MANE Select	NP_000466.2:n.*87A>C