Canonical Allele Identifier: CA412547222
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326538T>G (hg19) chrX:g.30308421T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308421T>G , CM000685.2:g.30308421T>G GRCh38
NC_000023.10:g.30326538T>G , CM000685.1:g.30326538T>G GRCh37
NC_000023.9:g.30236459T>G NCBI36
NG_009814.1:g.5958A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.943A>C MANE Select ENSP00000368253.4:p.Ser315Arg
ENST00000378963.1:c.58A>C ENSP00000368246.1:p.Ser20Arg
ENST00000378970.4:c.943A>C ENSP00000368253.4:p.Ser315Arg
NM_000475.4:c.943A>C NP_000466.2:p.Ser315Arg
NM_000475.5:c.943A>C MANE Select NP_000466.2:p.Ser315Arg
Search 100 bp 5'
Search 100 bp 3'