Canonical Allele Identifier: CA412548608
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326970A>G (hg19) chrX:g.30308853A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308853A>G , CM000685.2:g.30308853A>G GRCh38
NC_000023.10:g.30326970A>G , CM000685.1:g.30326970A>G GRCh37
NC_000023.9:g.30236891A>G NCBI36
NG_009814.1:g.5526T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.511T>C MANE Select ENSP00000368253.4:p.Trp171Arg
ENST00000378970.4:c.511T>C ENSP00000368253.4:p.Trp171Arg
NM_000475.4:c.511T>C NP_000466.2:p.Trp171Arg
NM_000475.5:c.511T>C MANE Select NP_000466.2:p.Trp171Arg
Search 100 bp 5'
Search 100 bp 3'