Canonical Allele Identifier: CA412546787
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308324G>A , CM000685.2:g.30308324G>A GRCh38
NC_000023.10:g.30326441G>A , CM000685.1:g.30326441G>A GRCh37
NC_000023.9:g.30236362G>A NCBI36
NG_009814.1:g.6055C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1040C>T MANE Select ENSP00000368253.4:p.Ala347Val
ENST00000378963.1:c.155C>T ENSP00000368246.1:p.Ala52Val
ENST00000378970.4:c.1040C>T ENSP00000368253.4:p.Ala347Val
NM_000475.4:c.1040C>T NP_000466.2:p.Ala347Val
NM_000475.5:c.1040C>T MANE Select NP_000466.2:p.Ala347Val