Canonical Allele Identifier: CA10376318
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2396848
ClinVar RCV Id: RCV002749386 RCV003778602
dbSNP Id: rs140259346
ExAC: X:30326448 G / T
gnomAD v2: X-30326448-G-T
gnomAD v3: X-30308331-G-T
gnomAD v4: X-30308331-G-T
MyVariant Identifiers: chrX:g.30326448G>T (hg19) chrX:g.30308331G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308331G>T , CM000685.2:g.30308331G>T GRCh38
NC_000023.10:g.30326448G>T , CM000685.1:g.30326448G>T GRCh37
NC_000023.9:g.30236369G>T NCBI36
NG_009814.1:g.6048C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1033C>A MANE Select ENSP00000368253.4:p.Pro345Thr
ENST00000378963.1:c.148C>A ENSP00000368246.1:p.Pro50Thr
ENST00000378970.4:c.1033C>A ENSP00000368253.4:p.Pro345Thr
NM_000475.4:c.1033C>A NP_000466.2:p.Pro345Thr
NM_000475.5:c.1033C>A MANE Select NP_000466.2:p.Pro345Thr
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