Canonical Allele Identifier: CA260497
Gene: NR0B1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.30308270A>G
GRCh37 chrX:g.30326387A>G
Revel Score:
ENST00000378970 (MANE Select) 0.953
ENST00000378963 0.953
ENST00000453287 0.953
ClinVar RCV:
RCV000030343
ClinVar Variation:
36664
dbSNP:
386134262
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308270A>G , CM000685.2:g.30308270A>G GRCh38
NC_000023.10:g.30326387A>G , CM000685.1:g.30326387A>G GRCh37
NC_000023.9:g.30236308A>G NCBI36
NG_009814.1:g.6109T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1094T>C MANE Select ENSP00000368253.4:p.Leu365Pro
ENST00000378963.1:c.209T>C ENSP00000368246.1:p.Leu70Pro
ENST00000378970.4:c.1094T>C ENSP00000368253.4:p.Leu365Pro
NM_000475.4:c.1094T>C NP_000466.2:p.Leu365Pro
NM_000475.5:c.1094T>C MANE Select NP_000466.2:p.Leu365Pro
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