Canonical Allele Identifier: CA412544322
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs1411568554
gnomAD v4: X-30304608-T-A
MyVariant Identifiers: chrX:g.30322725T>A (hg19) chrX:g.30304608T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304608T>A , CM000685.2:g.30304608T>A GRCh38
NC_000023.10:g.30322725T>A , CM000685.1:g.30322725T>A GRCh37
NC_000023.9:g.30232646T>A NCBI36
NG_009814.1:g.9771A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1384A>T MANE Select ENSP00000368253.4:p.Met462Leu
ENST00000378970.4:c.1384A>T ENSP00000368253.4:p.Met462Leu
NM_000475.4:c.1384A>T NP_000466.2:p.Met462Leu
NM_000475.5:c.1384A>T MANE Select NP_000466.2:p.Met462Leu
Search 100 bp 5'
Search 100 bp 3'