Canonical Allele Identifier: CA412545200
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30304723-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304723A>C , CM000685.2:g.30304723A>C GRCh38
NC_000023.10:g.30322840A>C , CM000685.1:g.30322840A>C GRCh37
NC_000023.9:g.30232761A>C NCBI36
NG_009814.1:g.9656T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1269T>G MANE Select ENSP00000368253.4:p.His423Gln
ENST00000378970.4:c.1269T>G ENSP00000368253.4:p.His423Gln
NM_000475.4:c.1269T>G NP_000466.2:p.His423Gln
NM_000475.5:c.1269T>G MANE Select NP_000466.2:p.His423Gln