Canonical Allele Identifier: CA412547213
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326537C>A (hg19) chrX:g.30308420C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308420C>A , CM000685.2:g.30308420C>A GRCh38
NC_000023.10:g.30326537C>A , CM000685.1:g.30326537C>A GRCh37
NC_000023.9:g.30236458C>A NCBI36
NG_009814.1:g.5959G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.944G>T MANE Select ENSP00000368253.4:p.Ser315Ile
ENST00000378963.1:c.59G>T ENSP00000368246.1:p.Ser20Ile
ENST00000378970.4:c.944G>T ENSP00000368253.4:p.Ser315Ile
NM_000475.4:c.944G>T NP_000466.2:p.Ser315Ile
NM_000475.5:c.944G>T MANE Select NP_000466.2:p.Ser315Ile
Search 100 bp 5'
Search 100 bp 3'