Canonical Allele Identifier: CA412548143
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2925663
ClinVar RCV Id: RCV003783757
MyVariant Identifiers: chrX:g.30326817G>A (hg19) chrX:g.30308700G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308700G>A , CM000685.2:g.30308700G>A GRCh38
NC_000023.10:g.30326817G>A , CM000685.1:g.30326817G>A GRCh37
NC_000023.9:g.30236738G>A NCBI36
NG_009814.1:g.5679C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.664C>T MANE Select ENSP00000368253.4:p.Gln222Ter
ENST00000378970.4:c.664C>T ENSP00000368253.4:p.Gln222Ter
NM_000475.4:c.664C>T NP_000466.2:p.Gln222Ter
NM_000475.5:c.664C>T MANE Select NP_000466.2:p.Gln222Ter
Search 100 bp 5'
Search 100 bp 3'