Canonical Allele Identifier: CA874614587

Gene: NR0B1

Linked Data

• dbSNP Id: rs1330738945
• gnomAD v3: X-30304559-C-T
• gnomAD v4: X-30304559-C-T
• MyVariant Identifiers: chrX:g.30322676C>T (hg19) ; chrX:g.30304559C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30304559C>T , CM000685.2:g.30304559C>T	GRCh38
NC_000023.10:g.30322676C>T , CM000685.1:g.30322676C>T	GRCh37
NC_000023.9:g.30232597C>T	NCBI36
NG_009814.1:g.9820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.*20G>A MANE Select	ENSP00000368253.4:n.*20G>A
ENST00000378970.4:c.*20G>A	ENSP00000368253.4:n.*20G>A
NM_000475.4:c.*20G>A	NP_000466.2:n.*20G>A
NM_000475.5:c.*20G>A MANE Select	NP_000466.2:n.*20G>A