Canonical Allele Identifier: CA255637
Gene: NR0B1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10969
ClinVar RCV Id: RCV000011716
dbSNP Id: rs104894897

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304676A>C , CM000685.2:g.30304676A>C GRCh38
NC_000023.10:g.30322793A>C , CM000685.1:g.30322793A>C GRCh37
NC_000023.9:g.30232714A>C NCBI36
NG_009814.1:g.9703T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1316T>G MANE Select ENSP00000368253.4:p.Ile439Ser
ENST00000378970.4:c.1316T>G ENSP00000368253.4:p.Ile439Ser
NM_000475.4:c.1316T>G NP_000466.2:p.Ile439Ser
NM_000475.5:c.1316T>G MANE Select NP_000466.2:p.Ile439Ser