Canonical Allele Identifier: CA412545486
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304765T>G , CM000685.2:g.30304765T>G GRCh38
NC_000023.10:g.30322882T>G , CM000685.1:g.30322882T>G GRCh37
NC_000023.9:g.30232803T>G NCBI36
NG_009814.1:g.9614A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1227A>C MANE Select ENSP00000368253.4:p.Gln409His
ENST00000378970.4:c.1227A>C ENSP00000368253.4:p.Gln409His
NM_000475.4:c.1227A>C NP_000466.2:p.Gln409His
NM_000475.5:c.1227A>C MANE Select NP_000466.2:p.Gln409His