Canonical Allele Identifier: CA412547195
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs1306844278
MyVariant Identifiers: chrX:g.30326533C>T (hg19) chrX:g.30308416C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308416C>T , CM000685.2:g.30308416C>T GRCh38
NC_000023.10:g.30326533C>T , CM000685.1:g.30326533C>T GRCh37
NC_000023.9:g.30236454C>T NCBI36
NG_009814.1:g.5963G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.948G>A MANE Select ENSP00000368253.4:p.Met316Ile
ENST00000378963.1:c.63G>A ENSP00000368246.1:p.Met21Ile
ENST00000378970.4:c.948G>A ENSP00000368253.4:p.Met316Ile
NM_000475.4:c.948G>A NP_000466.2:p.Met316Ile
NM_000475.5:c.948G>A MANE Select NP_000466.2:p.Met316Ile
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