Canonical Allele Identifier: CA10376337
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2931428
ClinVar RCV Id: RCV003785130
dbSNP Id: rs763218130
ExAC: X:30326545 C / T
gnomAD v2: X-30326545-C-T
gnomAD v3: X-30308428-C-T
gnomAD v4: X-30308428-C-T
COSMIC: COSM4707929 COSM4707930
MyVariant Identifiers: chrX:g.30326545C>T (hg19) chrX:g.30308428C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308428C>T , CM000685.2:g.30308428C>T GRCh38
NC_000023.10:g.30326545C>T , CM000685.1:g.30326545C>T GRCh37
NC_000023.9:g.30236466C>T NCBI36
NG_009814.1:g.5951G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.936G>A MANE Select ENSP00000368253.4:p.Ser312=
ENST00000378963.1:c.51G>A ENSP00000368246.1:p.Ser17=
ENST00000378970.4:c.936G>A ENSP00000368253.4:p.Ser312=
NM_000475.4:c.936G>A NP_000466.2:p.Ser312=
NM_000475.5:c.936G>A MANE Select NP_000466.2:p.Ser312=
Search 100 bp 5'
Search 100 bp 3'