Canonical Allele Identifier: CA412545232
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs1159488577
gnomAD v2: X-30322847-C-G
gnomAD v3: X-30304730-C-G
gnomAD v4: X-30304730-C-G
MyVariant Identifiers: chrX:g.30322847C>G (hg19) chrX:g.30304730C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304730C>G , CM000685.2:g.30304730C>G GRCh38
NC_000023.10:g.30322847C>G , CM000685.1:g.30322847C>G GRCh37
NC_000023.9:g.30232768C>G NCBI36
NG_009814.1:g.9649G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1262G>C MANE Select ENSP00000368253.4:p.Gly421Ala
ENST00000378970.4:c.1262G>C ENSP00000368253.4:p.Gly421Ala
NM_000475.4:c.1262G>C NP_000466.2:p.Gly421Ala
NM_000475.5:c.1262G>C MANE Select NP_000466.2:p.Gly421Ala
Search 100 bp 5'
Search 100 bp 3'