Canonical Allele Identifier: CA10376389

Gene: NR0B1

Linked Data

• ClinVar Variation Id: 2940189
• ClinVar RCV Id: RCV003797547
• dbSNP Id: rs757897514
• ExAC: X:30326971 C / T
• COSMIC: COSM378838
• MyVariant Identifiers: chrX:g.30326971C>T (hg19) ; chrX:g.30308854C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30308854C>T , CM000685.2:g.30308854C>T	GRCh38
NC_000023.10:g.30326971C>T , CM000685.1:g.30326971C>T	GRCh37
NC_000023.9:g.30236892C>T	NCBI36
NG_009814.1:g.5525G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.510G>A MANE Select	ENSP00000368253.4:p.Ala170=
ENST00000378970.4:c.510G>A	ENSP00000368253.4:p.Ala170=
NM_000475.4:c.510G>A	NP_000466.2:p.Ala170=
NM_000475.5:c.510G>A MANE Select	NP_000466.2:p.Ala170=