Canonical Allele Identifier: CA10376335
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs377428336
ExAC: X:30326542 C / A
gnomAD v2: X-30326542-C-A
gnomAD v4: X-30308425-C-A
MyVariant Identifiers: chrX:g.30326542C>A (hg19) chrX:g.30308425C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308425C>A , CM000685.2:g.30308425C>A GRCh38
NC_000023.10:g.30326542C>A , CM000685.1:g.30326542C>A GRCh37
NC_000023.9:g.30236463C>A NCBI36
NG_009814.1:g.5954G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.939G>T MANE Select ENSP00000368253.4:p.Glu313Asp
ENST00000378963.1:c.54G>T ENSP00000368246.1:p.Glu18Asp
ENST00000378970.4:c.939G>T ENSP00000368253.4:p.Glu313Asp
NM_000475.4:c.939G>T NP_000466.2:p.Glu313Asp
NM_000475.5:c.939G>T MANE Select NP_000466.2:p.Glu313Asp
Search 100 bp 5'
Search 100 bp 3'