Canonical Allele Identifier: CA412545198
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30304722-C-T
COSMIC: COSM1217760
MyVariant Identifiers: chrX:g.30322839C>T (hg19) chrX:g.30304722C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304722C>T , CM000685.2:g.30304722C>T GRCh38
NC_000023.10:g.30322839C>T , CM000685.1:g.30322839C>T GRCh37
NC_000023.9:g.30232760C>T NCBI36
NG_009814.1:g.9657G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1270G>A MANE Select ENSP00000368253.4:p.Asp424Asn
ENST00000378970.4:c.1270G>A ENSP00000368253.4:p.Asp424Asn
NM_000475.4:c.1270G>A NP_000466.2:p.Asp424Asn
NM_000475.5:c.1270G>A MANE Select NP_000466.2:p.Asp424Asn
Search 100 bp 5'
Search 100 bp 3'