Canonical Allele Identifier: CA515946372
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308527-G-T
MyVariant Identifiers: chrX:g.30326644G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308527G>T , CM000685.2:g.30308527G>T GRCh38
NC_000023.10:g.30326644G>T , CM000685.1:g.30326644G>T GRCh37
NC_000023.9:g.30236565G>T NCBI36
NG_009814.1:g.5852C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.837C>A MANE Select ENSP00000368253.4:p.Pro279=
ENST00000378970.4:c.837C>A ENSP00000368253.4:p.Pro279=
NM_000475.4:c.837C>A NP_000466.2:p.Pro279=
NM_000475.5:c.837C>A MANE Select NP_000466.2:p.Pro279=