Canonical Allele Identifier: CA412547975
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326735T>G (hg19) chrX:g.30308618T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308618T>G , CM000685.2:g.30308618T>G GRCh38
NC_000023.10:g.30326735T>G , CM000685.1:g.30326735T>G GRCh37
NC_000023.9:g.30236656T>G NCBI36
NG_009814.1:g.5761A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.746A>C MANE Select ENSP00000368253.4:p.Lys249Thr
ENST00000378970.4:c.746A>C ENSP00000368253.4:p.Lys249Thr
NM_000475.4:c.746A>C NP_000466.2:p.Lys249Thr
NM_000475.5:c.746A>C MANE Select NP_000466.2:p.Lys249Thr
Search 100 bp 5'
Search 100 bp 3'