Canonical Allele Identifier: CA412544310

Gene: NR0B1

Linked Data

• dbSNP Id: rs1926485978
• MyVariant Identifiers: chrX:g.30322719C>T (hg19) ; chrX:g.30304602C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30304602C>T , CM000685.2:g.30304602C>T	GRCh38
NC_000023.10:g.30322719C>T , CM000685.1:g.30322719C>T	GRCh37
NC_000023.9:g.30232640C>T	NCBI36
NG_009814.1:g.9777G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.1390G>A MANE Select	ENSP00000368253.4:p.Glu464Lys
ENST00000378970.4:c.1390G>A	ENSP00000368253.4:p.Glu464Lys
NM_000475.4:c.1390G>A	NP_000466.2:p.Glu464Lys
NM_000475.5:c.1390G>A MANE Select	NP_000466.2:p.Glu464Lys