Canonical Allele Identifier: CA412548193
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326840T>A (hg19) chrX:g.30308723T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308723T>A , CM000685.2:g.30308723T>A GRCh38
NC_000023.10:g.30326840T>A , CM000685.1:g.30326840T>A GRCh37
NC_000023.9:g.30236761T>A NCBI36
NG_009814.1:g.5656A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.641A>T MANE Select ENSP00000368253.4:p.Tyr214Phe
ENST00000378970.4:c.641A>T ENSP00000368253.4:p.Tyr214Phe
NM_000475.4:c.641A>T NP_000466.2:p.Tyr214Phe
NM_000475.5:c.641A>T MANE Select NP_000466.2:p.Tyr214Phe
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