Canonical Allele Identifier: CA412546733

Gene: NR0B1

Linked Data

• MyVariant Identifiers: chrX:g.30326431C>A (hg19) ; chrX:g.30308314C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30308314C>A , CM000685.2:g.30308314C>A	GRCh38
NC_000023.10:g.30326431C>A , CM000685.1:g.30326431C>A	GRCh37
NC_000023.9:g.30236352C>A	NCBI36
NG_009814.1:g.6065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.1050G>T MANE Select	ENSP00000368253.4:p.Arg350Ser
ENST00000378963.1:c.165G>T	ENSP00000368246.1:p.Arg55Ser
ENST00000378970.4:c.1050G>T	ENSP00000368253.4:p.Arg350Ser
NM_000475.4:c.1050G>T	NP_000466.2:p.Arg350Ser
NM_000475.5:c.1050G>T MANE Select	NP_000466.2:p.Arg350Ser