Canonical Allele Identifier: CA412546792
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308325C>T , CM000685.2:g.30308325C>T GRCh38
NC_000023.10:g.30326442C>T , CM000685.1:g.30326442C>T GRCh37
NC_000023.9:g.30236363C>T NCBI36
NG_009814.1:g.6054G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1039G>A MANE Select ENSP00000368253.4:p.Ala347Thr
ENST00000378963.1:c.154G>A ENSP00000368246.1:p.Ala52Thr
ENST00000378970.4:c.1039G>A ENSP00000368253.4:p.Ala347Thr
NM_000475.4:c.1039G>A NP_000466.2:p.Ala347Thr
NM_000475.5:c.1039G>A MANE Select NP_000466.2:p.Ala347Thr