Canonical Allele Identifier: CA412545488
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304766T>A , CM000685.2:g.30304766T>A GRCh38
NC_000023.10:g.30322883T>A , CM000685.1:g.30322883T>A GRCh37
NC_000023.9:g.30232804T>A NCBI36
NG_009814.1:g.9613A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1226A>T MANE Select ENSP00000368253.4:p.Gln409Leu
ENST00000378970.4:c.1226A>T ENSP00000368253.4:p.Gln409Leu
NM_000475.4:c.1226A>T NP_000466.2:p.Gln409Leu
NM_000475.5:c.1226A>T MANE Select NP_000466.2:p.Gln409Leu