Canonical Allele Identifier: CA10376262
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs748965652
ExAC: X:30322789 A / G
gnomAD v2: X-30322789-A-G
MyVariant Identifiers: chrX:g.30322789A>G (hg19) chrX:g.30304672A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304672A>G , CM000685.2:g.30304672A>G GRCh38
NC_000023.10:g.30322789A>G , CM000685.1:g.30322789A>G GRCh37
NC_000023.9:g.30232710A>G NCBI36
NG_009814.1:g.9707T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1320T>C MANE Select ENSP00000368253.4:p.Asn440=
ENST00000378970.4:c.1320T>C ENSP00000368253.4:p.Asn440=
NM_000475.4:c.1320T>C NP_000466.2:p.Asn440=
NM_000475.5:c.1320T>C MANE Select NP_000466.2:p.Asn440=
Search 100 bp 5'
Search 100 bp 3'