Canonical Allele Identifier: CA412545675
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304802A>G , CM000685.2:g.30304802A>G GRCh38
NC_000023.10:g.30322919A>G , CM000685.1:g.30322919A>G GRCh37
NC_000023.9:g.30232840A>G NCBI36
NG_009814.1:g.9577T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1190T>C MANE Select ENSP00000368253.4:p.Val397Ala
ENST00000378970.4:c.1190T>C ENSP00000368253.4:p.Val397Ala
NM_000475.4:c.1190T>C NP_000466.2:p.Val397Ala
NM_000475.5:c.1190T>C MANE Select NP_000466.2:p.Val397Ala