Canonical Allele Identifier: CA412548603

Gene: NR0B1

Linked Data

• dbSNP Id: rs104894891
• gnomAD v2: X-30326968-C-A
• gnomAD v4: X-30308851-C-A
• MyVariant Identifiers: chrX:g.30326968C>A (hg19) ; chrX:g.30308851C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30308851C>A , CM000685.2:g.30308851C>A	GRCh38
NC_000023.10:g.30326968C>A , CM000685.1:g.30326968C>A	GRCh37
NC_000023.9:g.30236889C>A	NCBI36
NG_009814.1:g.5528G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000378970.5:c.513G>T MANE Select	ENSP00000368253.4:p.Trp171Cys
ENST00000378970.4:c.513G>T	ENSP00000368253.4:p.Trp171Cys
NM_000475.4:c.513G>T	NP_000466.2:p.Trp171Cys
NM_000475.5:c.513G>T MANE Select	NP_000466.2:p.Trp171Cys