Canonical Allele Identifier: CA515946150
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326542C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308425C>T , CM000685.2:g.30308425C>T GRCh38
NC_000023.10:g.30326542C>T , CM000685.1:g.30326542C>T GRCh37
NC_000023.9:g.30236463C>T NCBI36
NG_009814.1:g.5954G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.939G>A MANE Select ENSP00000368253.4:p.Glu313=
ENST00000378963.1:c.54G>A ENSP00000368246.1:p.Glu18=
ENST00000378970.4:c.939G>A ENSP00000368253.4:p.Glu313=
NM_000475.4:c.939G>A NP_000466.2:p.Glu313=
NM_000475.5:c.939G>A MANE Select NP_000466.2:p.Glu313=