Canonical Allele Identifier: CA412546840

Gene: NR0B1

Linked Data

• MyVariant Identifiers: chrX:g.30326453A>T (hg19) ; chrX:g.30308336A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.30308336A>T , CM000685.2:g.30308336A>T	GRCh38
NC_000023.10:g.30326453A>T , CM000685.1:g.30326453A>T	GRCh37
NC_000023.9:g.30236374A>T	NCBI36
NG_009814.1:g.6043T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378970.5:c.1028T>A MANE Select	ENSP00000368253.4:p.Leu343Ter
ENST00000378963.1:c.143T>A	ENSP00000368246.1:p.Leu48Ter
ENST00000378970.4:c.1028T>A	ENSP00000368253.4:p.Leu343Ter
NM_000475.4:c.1028T>A	NP_000466.2:p.Leu343Ter
NM_000475.5:c.1028T>A MANE Select	NP_000466.2:p.Leu343Ter