Canonical Allele Identifier: CA412547232
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308424-G-T
MyVariant Identifiers: chrX:g.30326541G>T (hg19) chrX:g.30308424G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308424G>T , CM000685.2:g.30308424G>T GRCh38
NC_000023.10:g.30326541G>T , CM000685.1:g.30326541G>T GRCh37
NC_000023.9:g.30236462G>T NCBI36
NG_009814.1:g.5955C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.940C>A MANE Select ENSP00000368253.4:p.Pro314Thr
ENST00000378963.1:c.55C>A ENSP00000368246.1:p.Pro19Thr
ENST00000378970.4:c.940C>A ENSP00000368253.4:p.Pro314Thr
NM_000475.4:c.940C>A NP_000466.2:p.Pro314Thr
NM_000475.5:c.940C>A MANE Select NP_000466.2:p.Pro314Thr
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