Canonical Allele Identifier: CA412547979
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308619-T-C
MyVariant Identifiers: chrX:g.30326736T>C (hg19) chrX:g.30308619T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308619T>C , CM000685.2:g.30308619T>C GRCh38
NC_000023.10:g.30326736T>C , CM000685.1:g.30326736T>C GRCh37
NC_000023.9:g.30236657T>C NCBI36
NG_009814.1:g.5760A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.745A>G MANE Select ENSP00000368253.4:p.Lys249Glu
ENST00000378970.4:c.745A>G ENSP00000368253.4:p.Lys249Glu
NM_000475.4:c.745A>G NP_000466.2:p.Lys249Glu
NM_000475.5:c.745A>G MANE Select NP_000466.2:p.Lys249Glu
Search 100 bp 5'
Search 100 bp 3'