Canonical Allele Identifier: CA412547202
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308418T>A , CM000685.2:g.30308418T>A GRCh38
NC_000023.10:g.30326535T>A , CM000685.1:g.30326535T>A GRCh37
NC_000023.9:g.30236456T>A NCBI36
NG_009814.1:g.5961A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.946A>T MANE Select ENSP00000368253.4:p.Met316Leu
ENST00000378963.1:c.61A>T ENSP00000368246.1:p.Met21Leu
ENST00000378970.4:c.946A>T ENSP00000368253.4:p.Met316Leu
NM_000475.4:c.946A>T NP_000466.2:p.Met316Leu
NM_000475.5:c.946A>T MANE Select NP_000466.2:p.Met316Leu