Canonical Allele Identifier: CA10376250
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs775163498
ExAC: X:30322668 C / G
gnomAD v2: X-30322668-C-G
gnomAD v3: X-30304551-C-G
gnomAD v4: X-30304551-C-G
MyVariant Identifiers: chrX:g.30322668C>G (hg19) chrX:g.30304551C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304551C>G , CM000685.2:g.30304551C>G GRCh38
NC_000023.10:g.30322668C>G , CM000685.1:g.30322668C>G GRCh37
NC_000023.9:g.30232589C>G NCBI36
NG_009814.1:g.9828G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.*28G>C MANE Select ENSP00000368253.4:n.*28G>C
ENST00000378970.4:c.*28G>C ENSP00000368253.4:n.*28G>C
NM_000475.4:c.*28G>C NP_000466.2:n.*28G>C
NM_000475.5:c.*28G>C MANE Select NP_000466.2:n.*28G>C
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