Canonical Allele Identifier: CA412547220
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308421T>A , CM000685.2:g.30308421T>A GRCh38
NC_000023.10:g.30326538T>A , CM000685.1:g.30326538T>A GRCh37
NC_000023.9:g.30236459T>A NCBI36
NG_009814.1:g.5958A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.943A>T MANE Select ENSP00000368253.4:p.Ser315Cys
ENST00000378963.1:c.58A>T ENSP00000368246.1:p.Ser20Cys
ENST00000378970.4:c.943A>T ENSP00000368253.4:p.Ser315Cys
NM_000475.4:c.943A>T NP_000466.2:p.Ser315Cys
NM_000475.5:c.943A>T MANE Select NP_000466.2:p.Ser315Cys