Canonical Allele Identifier: CA412547645
Gene: NR0B1 HGNC NCBI

Linked Data

COSMIC: COSM22060
MyVariant Identifiers: chrX:g.30326640C>T (hg19) chrX:g.30308523C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308523C>T , CM000685.2:g.30308523C>T GRCh38
NC_000023.10:g.30326640C>T , CM000685.1:g.30326640C>T GRCh37
NC_000023.9:g.30236561C>T NCBI36
NG_009814.1:g.5856G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.841G>A MANE Select ENSP00000368253.4:p.Asp281Asn
ENST00000378970.4:c.841G>A ENSP00000368253.4:p.Asp281Asn
NM_000475.4:c.841G>A NP_000466.2:p.Asp281Asn
NM_000475.5:c.841G>A MANE Select NP_000466.2:p.Asp281Asn
Search 100 bp 5'
Search 100 bp 3'