Canonical Allele Identifier: CA327975636
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs767510454
gnomAD v2: X-30326165-A-G
gnomAD v3: X-30308048-A-G
gnomAD v4: X-30308048-A-G
MyVariant Identifiers: chrX:g.30326165A>G (hg19) chrX:g.30308048A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308048A>G , CM000685.2:g.30308048A>G GRCh38
NC_000023.10:g.30326165A>G , CM000685.1:g.30326165A>G GRCh37
NC_000023.9:g.30236086A>G NCBI36
NG_009814.1:g.6331T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1168+148T>C MANE Select ENSP00000368253.4:n.1168+148T>C
ENST00000378963.1:c.283+148T>C ENSP00000368246.1:n.283+148T>C
ENST00000378970.4:c.1168+148T>C ENSP00000368253.4:n.1168+148T>C
NM_000475.4:c.1168+148T>C NP_000466.2:n.1168+148T>C
NM_000475.5:c.1168+148T>C MANE Select NP_000466.2:n.1168+148T>C
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