Canonical Allele Identifier: CA412546680
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326414G>C (hg19) chrX:g.30308297G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308297G>C , CM000685.2:g.30308297G>C GRCh38
NC_000023.10:g.30326414G>C , CM000685.1:g.30326414G>C GRCh37
NC_000023.9:g.30236335G>C NCBI36
NG_009814.1:g.6082C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1067C>G MANE Select ENSP00000368253.4:p.Ser356Cys
ENST00000378963.1:c.182C>G ENSP00000368246.1:p.Ser61Cys
ENST00000378970.4:c.1067C>G ENSP00000368253.4:p.Ser356Cys
NM_000475.4:c.1067C>G NP_000466.2:p.Ser356Cys
NM_000475.5:c.1067C>G MANE Select NP_000466.2:p.Ser356Cys
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