Canonical Allele Identifier: CA412545586
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304785G>A , CM000685.2:g.30304785G>A GRCh38
NC_000023.10:g.30322902G>A , CM000685.1:g.30322902G>A GRCh37
NC_000023.9:g.30232823G>A NCBI36
NG_009814.1:g.9594C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1207C>T MANE Select ENSP00000368253.4:p.Leu403Phe
ENST00000378970.4:c.1207C>T ENSP00000368253.4:p.Leu403Phe
NM_000475.4:c.1207C>T NP_000466.2:p.Leu403Phe
NM_000475.5:c.1207C>T MANE Select NP_000466.2:p.Leu403Phe