Canonical Allele Identifier: CA412546774
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308321T>G , CM000685.2:g.30308321T>G GRCh38
NC_000023.10:g.30326438T>G , CM000685.1:g.30326438T>G GRCh37
NC_000023.9:g.30236359T>G NCBI36
NG_009814.1:g.6058A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1043A>C MANE Select ENSP00000368253.4:p.Glu348Ala
ENST00000378963.1:c.158A>C ENSP00000368246.1:p.Glu53Ala
ENST00000378970.4:c.1043A>C ENSP00000368253.4:p.Glu348Ala
NM_000475.4:c.1043A>C NP_000466.2:p.Glu348Ala
NM_000475.5:c.1043A>C MANE Select NP_000466.2:p.Glu348Ala