Canonical Allele Identifier: CA10376338
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs766165592
ExAC: X:30326546 G / C
gnomAD v2: X-30326546-G-C
gnomAD v4: X-30308429-G-C
MyVariant Identifiers: chrX:g.30326546G>C (hg19) chrX:g.30308429G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308429G>C , CM000685.2:g.30308429G>C GRCh38
NC_000023.10:g.30326546G>C , CM000685.1:g.30326546G>C GRCh37
NC_000023.9:g.30236467G>C NCBI36
NG_009814.1:g.5950C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.935C>G MANE Select ENSP00000368253.4:p.Ser312Trp
ENST00000378963.1:c.50C>G ENSP00000368246.1:p.Ser17Trp
ENST00000378970.4:c.935C>G ENSP00000368253.4:p.Ser312Trp
NM_000475.4:c.935C>G NP_000466.2:p.Ser312Trp
NM_000475.5:c.935C>G MANE Select NP_000466.2:p.Ser312Trp
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