Canonical Allele Identifier: CA10376266
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs771962815
ExAC: X:30322825 T / A
gnomAD v2: X-30322825-T-A
gnomAD v3: X-30304708-T-A
gnomAD v4: X-30304708-T-A
MyVariant Identifiers: chrX:g.30322825T>A (hg19) chrX:g.30304708T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304708T>A , CM000685.2:g.30304708T>A GRCh38
NC_000023.10:g.30322825T>A , CM000685.1:g.30322825T>A GRCh37
NC_000023.9:g.30232746T>A NCBI36
NG_009814.1:g.9671A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1284A>T MANE Select ENSP00000368253.4:p.Glu428Asp
ENST00000378970.4:c.1284A>T ENSP00000368253.4:p.Glu428Asp
NM_000475.4:c.1284A>T NP_000466.2:p.Glu428Asp
NM_000475.5:c.1284A>T MANE Select NP_000466.2:p.Glu428Asp
Search 100 bp 5'
Search 100 bp 3'