Canonical Allele Identifier: CA412547235
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326543T>G (hg19) chrX:g.30308426T>G (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.938A>C MANE Select ENSP00000368253.4:p.Glu313Ala
ENST00000378963.1:c.53A>C ENSP00000368246.1:p.Glu18Ala
ENST00000378970.4:c.938A>C ENSP00000368253.4:p.Glu313Ala
NM_000475.4:c.938A>C NP_000466.2:p.Glu313Ala
NM_000475.5:c.938A>C MANE Select NP_000466.2:p.Glu313Ala
Search 100 bp 5'
Search 100 bp 3'