Canonical Allele Identifier: CA10376357
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2928335
ClinVar RCV Id: RCV003787157
dbSNP Id: rs759270255
ExAC: X:30326741 G / A
gnomAD v2: X-30326741-G-A
gnomAD v3: X-30308624-G-A
gnomAD v4: X-30308624-G-A
MyVariant Identifiers: chrX:g.30326741G>A (hg19) chrX:g.30308624G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308624G>A , CM000685.2:g.30308624G>A GRCh38
NC_000023.10:g.30326741G>A , CM000685.1:g.30326741G>A GRCh37
NC_000023.9:g.30236662G>A NCBI36
NG_009814.1:g.5755C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.740C>T MANE Select ENSP00000368253.4:p.Ala247Val
ENST00000378970.4:c.740C>T ENSP00000368253.4:p.Ala247Val
NM_000475.4:c.740C>T NP_000466.2:p.Ala247Val
NM_000475.5:c.740C>T MANE Select NP_000466.2:p.Ala247Val
Search 100 bp 5'
Search 100 bp 3'