Canonical Allele Identifier: CA412546718
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308311C>A , CM000685.2:g.30308311C>A GRCh38
NC_000023.10:g.30326428C>A , CM000685.1:g.30326428C>A GRCh37
NC_000023.9:g.30236349C>A NCBI36
NG_009814.1:g.6068G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1053G>T MANE Select ENSP00000368253.4:p.Lys351Asn
ENST00000378963.1:c.168G>T ENSP00000368246.1:p.Lys56Asn
ENST00000378970.4:c.1053G>T ENSP00000368253.4:p.Lys351Asn
NM_000475.4:c.1053G>T NP_000466.2:p.Lys351Asn
NM_000475.5:c.1053G>T MANE Select NP_000466.2:p.Lys351Asn