Canonical Allele Identifier: CA515946414
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326812C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308695C>G , CM000685.2:g.30308695C>G GRCh38
NC_000023.10:g.30326812C>G , CM000685.1:g.30326812C>G GRCh37
NC_000023.9:g.30236733C>G NCBI36
NG_009814.1:g.5684G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.669G>C MANE Select ENSP00000368253.4:p.Ala223=
ENST00000378970.4:c.669G>C ENSP00000368253.4:p.Ala223=
NM_000475.4:c.669G>C NP_000466.2:p.Ala223=
NM_000475.5:c.669G>C MANE Select NP_000466.2:p.Ala223=