Canonical Allele Identifier: CA10376259
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs753067688
ExAC: X:30322763 A / C
gnomAD v2: X-30322763-A-C
gnomAD v3: X-30304646-A-C
gnomAD v4: X-30304646-A-C
MyVariant Identifiers: chrX:g.30322763A>C (hg19) chrX:g.30304646A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304646A>C , CM000685.2:g.30304646A>C GRCh38
NC_000023.10:g.30322763A>C , CM000685.1:g.30322763A>C GRCh37
NC_000023.9:g.30232684A>C NCBI36
NG_009814.1:g.9733T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1346T>G MANE Select ENSP00000368253.4:p.Phe449Cys
ENST00000378970.4:c.1346T>G ENSP00000368253.4:p.Phe449Cys
NM_000475.4:c.1346T>G NP_000466.2:p.Phe449Cys
NM_000475.5:c.1346T>G MANE Select NP_000466.2:p.Phe449Cys
Search 100 bp 5'
Search 100 bp 3'