Canonical Allele Identifier: CA412548141

Gene: NR0B1

Linked Data

• dbSNP Id: rs1207705997
• gnomAD v2: X-30326816-T-C
• gnomAD v4: X-30308699-T-C
• MyVariant Identifiers: chrX:g.30326816T>C (hg19) ; chrX:g.30308699T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30308699T>C , CM000685.2:g.30308699T>C	GRCh38
NC_000023.10:g.30326816T>C , CM000685.1:g.30326816T>C	GRCh37
NC_000023.9:g.30236737T>C	NCBI36
NG_009814.1:g.5680A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.665A>G MANE Select	ENSP00000368253.4:p.Gln222Arg
ENST00000378970.4:c.665A>G	ENSP00000368253.4:p.Gln222Arg
NM_000475.4:c.665A>G	NP_000466.2:p.Gln222Arg
NM_000475.5:c.665A>G MANE Select	NP_000466.2:p.Gln222Arg