Canonical Allele Identifier: CA412546745

Gene: NR0B1

Linked Data

• MyVariant Identifiers: chrX:g.30326433T>C (hg19) ; chrX:g.30308316T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30308316T>C , CM000685.2:g.30308316T>C	GRCh38
NC_000023.10:g.30326433T>C , CM000685.1:g.30326433T>C	GRCh37
NC_000023.9:g.30236354T>C	NCBI36
NG_009814.1:g.6063A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.1048A>G MANE Select	ENSP00000368253.4:p.Arg350Gly
ENST00000378963.1:c.163A>G	ENSP00000368246.1:p.Arg55Gly
ENST00000378970.4:c.1048A>G	ENSP00000368253.4:p.Arg350Gly
NM_000475.4:c.1048A>G	NP_000466.2:p.Arg350Gly
NM_000475.5:c.1048A>G MANE Select	NP_000466.2:p.Arg350Gly