Canonical Allele Identifier: CA515946215
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326749C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308632C>T , CM000685.2:g.30308632C>T GRCh38
NC_000023.10:g.30326749C>T , CM000685.1:g.30326749C>T GRCh37
NC_000023.9:g.30236670C>T NCBI36
NG_009814.1:g.5747G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.732G>A MANE Select ENSP00000368253.4:p.Arg244=
ENST00000378970.4:c.732G>A ENSP00000368253.4:p.Arg244=
NM_000475.4:c.732G>A NP_000466.2:p.Arg244=
NM_000475.5:c.732G>A MANE Select NP_000466.2:p.Arg244=