Canonical Allele Identifier: CA412548151
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308703T>G , CM000685.2:g.30308703T>G GRCh38
NC_000023.10:g.30326820T>G , CM000685.1:g.30326820T>G GRCh37
NC_000023.9:g.30236741T>G NCBI36
NG_009814.1:g.5676A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.661A>C MANE Select ENSP00000368253.4:p.Asn221His
ENST00000378970.4:c.661A>C ENSP00000368253.4:p.Asn221His
NM_000475.4:c.661A>C NP_000466.2:p.Asn221His
NM_000475.5:c.661A>C MANE Select NP_000466.2:p.Asn221His