Canonical Allele Identifier: CA10376248
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs745827190
ExAC: X:30322657 G / A
gnomAD v2: X-30322657-G-A
gnomAD v3: X-30304540-G-A
gnomAD v4: X-30304540-G-A
MyVariant Identifiers: chrX:g.30322657G>A (hg19) chrX:g.30304540G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304540G>A , CM000685.2:g.30304540G>A GRCh38
NC_000023.10:g.30322657G>A , CM000685.1:g.30322657G>A GRCh37
NC_000023.9:g.30232578G>A NCBI36
NG_009814.1:g.9839C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.*39C>T MANE Select ENSP00000368253.4:n.*39C>T
ENST00000378970.4:c.*39C>T ENSP00000368253.4:n.*39C>T
NM_000475.4:c.*39C>T NP_000466.2:n.*39C>T
NM_000475.5:c.*39C>T MANE Select NP_000466.2:n.*39C>T
Search 100 bp 5'
Search 100 bp 3'