Canonical Allele Identifier: CA412546292
Gene: NR0B1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.30308222A>G
GRCh37 chrX:g.30326339A>G
Revel Score:
ENST00000378970 (MANE Select) 0.959
ENST00000378963 0.959
ENST00000453287 0.959
ClinVar RCV:
RCV000584385
RCV000635250
ClinVar Variation:
492856
dbSNP:
104894899
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308222A>G , CM000685.2:g.30308222A>G GRCh38
NC_000023.10:g.30326339A>G , CM000685.1:g.30326339A>G GRCh37
NC_000023.9:g.30236260A>G NCBI36
NG_009814.1:g.6157T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1142T>C MANE Select ENSP00000368253.4:p.Leu381Pro
ENST00000378963.1:c.257T>C ENSP00000368246.1:p.Leu86Pro
ENST00000378970.4:c.1142T>C ENSP00000368253.4:p.Leu381Pro
NM_000475.4:c.1142T>C NP_000466.2:p.Leu381Pro
NM_000475.5:c.1142T>C MANE Select NP_000466.2:p.Leu381Pro
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