Canonical Allele Identifier: CA515716075
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30322822A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30304705A>C , CM000685.2:g.30304705A>C GRCh38
NC_000023.10:g.30322822A>C , CM000685.1:g.30322822A>C GRCh37
NC_000023.9:g.30232743A>C NCBI36
NG_009814.1:g.9674T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1287T>G MANE Select ENSP00000368253.4:p.Leu429=
ENST00000378970.4:c.1287T>G ENSP00000368253.4:p.Leu429=
NM_000475.4:c.1287T>G NP_000466.2:p.Leu429=
NM_000475.5:c.1287T>G MANE Select NP_000466.2:p.Leu429=