Canonical Allele Identifier: CA412548184
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308719G>C , CM000685.2:g.30308719G>C GRCh38
NC_000023.10:g.30326836G>C , CM000685.1:g.30326836G>C GRCh37
NC_000023.9:g.30236757G>C NCBI36
NG_009814.1:g.5660C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.645C>G MANE Select ENSP00000368253.4:p.Cys215Trp
ENST00000378970.4:c.645C>G ENSP00000368253.4:p.Cys215Trp
NM_000475.4:c.645C>G NP_000466.2:p.Cys215Trp
NM_000475.5:c.645C>G MANE Select NP_000466.2:p.Cys215Trp