Canonical Allele Identifier: CA412546899

Gene: NR0B1

Linked Data

• MyVariant Identifiers: chrX:g.30326463G>T (hg19) ; chrX:g.30308346G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30308346G>T , CM000685.2:g.30308346G>T	GRCh38
NC_000023.10:g.30326463G>T , CM000685.1:g.30326463G>T	GRCh37
NC_000023.9:g.30236384G>T	NCBI36
NG_009814.1:g.6033C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.1018C>A MANE Select	ENSP00000368253.4:p.Gln340Lys
ENST00000378963.1:c.133C>A	ENSP00000368246.1:p.Gln45Lys
ENST00000378970.4:c.1018C>A	ENSP00000368253.4:p.Gln340Lys
NM_000475.4:c.1018C>A	NP_000466.2:p.Gln340Lys
NM_000475.5:c.1018C>A MANE Select	NP_000466.2:p.Gln340Lys