Canonical Allele Identifier: CA412548144
Gene: NR0B1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308700G>C , CM000685.2:g.30308700G>C GRCh38
NC_000023.10:g.30326817G>C , CM000685.1:g.30326817G>C GRCh37
NC_000023.9:g.30236738G>C NCBI36
NG_009814.1:g.5679C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.664C>G MANE Select ENSP00000368253.4:p.Gln222Glu
ENST00000378970.4:c.664C>G ENSP00000368253.4:p.Gln222Glu
NM_000475.4:c.664C>G NP_000466.2:p.Gln222Glu
NM_000475.5:c.664C>G MANE Select NP_000466.2:p.Gln222Glu