Canonical Allele Identifier: CA640974718

Gene: NR0B1

Linked Data

• dbSNP Id: rs1194782076
• gnomAD v2: X-30322966-A-G
• gnomAD v4: X-30304849-A-G
• MyVariant Identifiers: chrX:g.30322966A>G (hg19) ; chrX:g.30304849A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30304849A>G , CM000685.2:g.30304849A>G	GRCh38
NC_000023.10:g.30322966A>G , CM000685.1:g.30322966A>G	GRCh37
NC_000023.9:g.30232887A>G	NCBI36
NG_009814.1:g.9530T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.1169-26T>C MANE Select	ENSP00000368253.4:n.1169-26T>C
ENST00000378970.4:c.1169-26T>C	ENSP00000368253.4:n.1169-26T>C
NM_000475.4:c.1169-26T>C	NP_000466.2:n.1169-26T>C
NM_000475.5:c.1169-26T>C MANE Select	NP_000466.2:n.1169-26T>C