Canonical Allele Identifier: CA412548032
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308648-G-T
MyVariant Identifiers: chrX:g.30326765G>T (hg19) chrX:g.30308648G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308648G>T , CM000685.2:g.30308648G>T GRCh38
NC_000023.10:g.30326765G>T , CM000685.1:g.30326765G>T GRCh37
NC_000023.9:g.30236686G>T NCBI36
NG_009814.1:g.5731C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.716C>A MANE Select ENSP00000368253.4:p.Ser239Tyr
ENST00000378970.4:c.716C>A ENSP00000368253.4:p.Ser239Tyr
NM_000475.4:c.716C>A NP_000466.2:p.Ser239Tyr
NM_000475.5:c.716C>A MANE Select NP_000466.2:p.Ser239Tyr
Search 100 bp 5'
Search 100 bp 3'