Canonical Allele Identifier: CA412547234
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs1926567303
gnomAD v3: X-30308426-T-C
gnomAD v4: X-30308426-T-C
MyVariant Identifiers: chrX:g.30326543T>C (hg19) chrX:g.30308426T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308426T>C , CM000685.2:g.30308426T>C GRCh38
NC_000023.10:g.30326543T>C , CM000685.1:g.30326543T>C GRCh37
NC_000023.9:g.30236464T>C NCBI36
NG_009814.1:g.5953A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.938A>G MANE Select ENSP00000368253.4:p.Glu313Gly
ENST00000378963.1:c.53A>G ENSP00000368246.1:p.Glu18Gly
ENST00000378970.4:c.938A>G ENSP00000368253.4:p.Glu313Gly
NM_000475.4:c.938A>G NP_000466.2:p.Glu313Gly
NM_000475.5:c.938A>G MANE Select NP_000466.2:p.Glu313Gly
Search 100 bp 5'
Search 100 bp 3'