Canonical Allele Identifier: CA2579577195
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308122-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308122C>T , CM000685.2:g.30308122C>T GRCh38
NC_000023.10:g.30326239C>T , CM000685.1:g.30326239C>T GRCh37
NC_000023.9:g.30236160C>T NCBI36
NG_009814.1:g.6257G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1168+74G>A MANE Select ENSP00000368253.4:n.1168+74G>A
ENST00000378963.1:c.283+74G>A ENSP00000368246.1:n.283+74G>A
ENST00000378970.4:c.1168+74G>A ENSP00000368253.4:n.1168+74G>A
NM_000475.4:c.1168+74G>A NP_000466.2:n.1168+74G>A
NM_000475.5:c.1168+74G>A MANE Select NP_000466.2:n.1168+74G>A