Canonical Allele Identifier: CA515945982
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326482T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308365T>G , CM000685.2:g.30308365T>G GRCh38
NC_000023.10:g.30326482T>G , CM000685.1:g.30326482T>G GRCh37
NC_000023.9:g.30236403T>G NCBI36
NG_009814.1:g.6014A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.999A>C MANE Select ENSP00000368253.4:p.Pro333=
ENST00000378963.1:c.114A>C ENSP00000368246.1:p.Pro38=
ENST00000378970.4:c.999A>C ENSP00000368253.4:p.Pro333=
NM_000475.4:c.999A>C NP_000466.2:p.Pro333=
NM_000475.5:c.999A>C MANE Select NP_000466.2:p.Pro333=