Canonical Allele Identifier: CA327974104
Gene: NR0B1 HGNC NCBI
MyVariant.info:
GRCh38 chrX:g.30304673T>C
GRCh37 chrX:g.30322790T>C
Revel Score:
ENST00000378970 (MANE Select) 0.238
gnomAD v2:
X:30322790 T / C
gnomAD v3:
X:30304673 T / C
gnomAD v4:
chrX-30304673-T-C
Joint Max Group AF 3.7e-7 (NFE)
Exomes Max Group AF 4e-7 (NFE)
ClinVar RCV:
RCV004800219
ClinVar Variation:
3385083
dbSNP:
28935481
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304673T>C , CM000685.2:g.30304673T>C GRCh38
NC_000023.10:g.30322790T>C , CM000685.1:g.30322790T>C GRCh37
NC_000023.9:g.30232711T>C NCBI36
NG_009814.1:g.9706A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1319A>G MANE Select ENSP00000368253.4:p.Asn440Ser
ENST00000378970.4:c.1319A>G ENSP00000368253.4:p.Asn440Ser
NM_000475.4:c.1319A>G NP_000466.2:p.Asn440Ser
NM_000475.5:c.1319A>G MANE Select NP_000466.2:p.Asn440Ser
Search 100 bp 5'
Search 100 bp 3'