Canonical Allele Identifier: CA412545202
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs1601791339

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304723A>T , CM000685.2:g.30304723A>T GRCh38
NC_000023.10:g.30322840A>T , CM000685.1:g.30322840A>T GRCh37
NC_000023.9:g.30232761A>T NCBI36
NG_009814.1:g.9656T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1269T>A MANE Select ENSP00000368253.4:p.His423Gln
ENST00000378970.4:c.1269T>A ENSP00000368253.4:p.His423Gln
NM_000475.4:c.1269T>A NP_000466.2:p.His423Gln
NM_000475.5:c.1269T>A MANE Select NP_000466.2:p.His423Gln