Canonical Allele Identifier: CA515715968
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2939716
ClinVar RCV Id: RCV003794882
gnomAD v3: X-30304594-G-C
gnomAD v4: X-30304594-G-C
MyVariant Identifiers: chrX:g.30322711G>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304594G>C , CM000685.2:g.30304594G>C GRCh38
NC_000023.10:g.30322711G>C , CM000685.1:g.30322711G>C GRCh37
NC_000023.9:g.30232632G>C NCBI36
NG_009814.1:g.9785C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1398C>G MANE Select ENSP00000368253.4:p.Leu466=
ENST00000378970.4:c.1398C>G ENSP00000368253.4:p.Leu466=
NM_000475.4:c.1398C>G NP_000466.2:p.Leu466=
NM_000475.5:c.1398C>G MANE Select NP_000466.2:p.Leu466=
Search 100 bp 5'
Search 100 bp 3'