Canonical Allele Identifier: CA412547225
Gene: NR0B1 HGNC NCBI

Linked Data

MyVariant Identifiers: chrX:g.30326540G>A (hg19) chrX:g.30308423G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308423G>A , CM000685.2:g.30308423G>A GRCh38
NC_000023.10:g.30326540G>A , CM000685.1:g.30326540G>A GRCh37
NC_000023.9:g.30236461G>A NCBI36
NG_009814.1:g.5956C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.941C>T MANE Select ENSP00000368253.4:p.Pro314Leu
ENST00000378963.1:c.56C>T ENSP00000368246.1:p.Pro19Leu
ENST00000378970.4:c.941C>T ENSP00000368253.4:p.Pro314Leu
NM_000475.4:c.941C>T NP_000466.2:p.Pro314Leu
NM_000475.5:c.941C>T MANE Select NP_000466.2:p.Pro314Leu
Search 100 bp 5'
Search 100 bp 3'