Canonical Allele Identifier: CA10376265
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs745325424
gnomAD v2: X-30322799-C-G
gnomAD v3: X-30304682-C-G
gnomAD v4: X-30304682-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304682C>G , CM000685.2:g.30304682C>G GRCh38
NC_000023.10:g.30322799C>G , CM000685.1:g.30322799C>G GRCh37
NC_000023.9:g.30232720C>G NCBI36
NG_009814.1:g.9697G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1310G>C MANE Select ENSP00000368253.4:p.Arg437Thr
ENST00000378970.4:c.1310G>C ENSP00000368253.4:p.Arg437Thr
NM_000475.4:c.1310G>C NP_000466.2:p.Arg437Thr
NM_000475.5:c.1310G>C MANE Select NP_000466.2:p.Arg437Thr