Canonical Allele Identifier: CA412548104
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs866813029
gnomAD v4: X-30308681-T-C
MyVariant Identifiers: chrX:g.30326798T>C (hg19) chrX:g.30308681T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308681T>C , CM000685.2:g.30308681T>C GRCh38
NC_000023.10:g.30326798T>C , CM000685.1:g.30326798T>C GRCh37
NC_000023.9:g.30236719T>C NCBI36
NG_009814.1:g.5698A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.683A>G MANE Select ENSP00000368253.4:p.Glu228Gly
ENST00000378970.4:c.683A>G ENSP00000368253.4:p.Glu228Gly
NM_000475.4:c.683A>G NP_000466.2:p.Glu228Gly
NM_000475.5:c.683A>G MANE Select NP_000466.2:p.Glu228Gly
Search 100 bp 5'
Search 100 bp 3'