Canonical Allele Identifier: CA412548097
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326795T>G (hg19) chrX:g.30308678T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308678T>G , CM000685.2:g.30308678T>G GRCh38
NC_000023.10:g.30326795T>G , CM000685.1:g.30326795T>G GRCh37
NC_000023.9:g.30236716T>G NCBI36
NG_009814.1:g.5701A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.686A>C MANE Select ENSP00000368253.4:p.Glu229Ala
ENST00000378970.4:c.686A>C ENSP00000368253.4:p.Glu229Ala
NM_000475.4:c.686A>C NP_000466.2:p.Glu229Ala
NM_000475.5:c.686A>C MANE Select NP_000466.2:p.Glu229Ala
Search 100 bp 5'
Search 100 bp 3'