Canonical Allele Identifier: CA515945863
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308308-C-T
MyVariant Identifiers: chrX:g.30326425C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308308C>T , CM000685.2:g.30308308C>T GRCh38
NC_000023.10:g.30326425C>T , CM000685.1:g.30326425C>T GRCh37
NC_000023.9:g.30236346C>T NCBI36
NG_009814.1:g.6071G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1056G>A MANE Select ENSP00000368253.4:p.Val352=
ENST00000378963.1:c.171G>A ENSP00000368246.1:p.Val57=
ENST00000378970.4:c.1056G>A ENSP00000368253.4:p.Val352=
NM_000475.4:c.1056G>A NP_000466.2:p.Val352=
NM_000475.5:c.1056G>A MANE Select NP_000466.2:p.Val352=