Canonical Allele Identifier: CA2579577199
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308131-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308131A>T , CM000685.2:g.30308131A>T GRCh38
NC_000023.10:g.30326248A>T , CM000685.1:g.30326248A>T GRCh37
NC_000023.9:g.30236169A>T NCBI36
NG_009814.1:g.6248T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1168+65T>A MANE Select ENSP00000368253.4:n.1168+65T>A
ENST00000378963.1:c.283+65T>A ENSP00000368246.1:n.283+65T>A
ENST00000378970.4:c.1168+65T>A ENSP00000368253.4:n.1168+65T>A
NM_000475.4:c.1168+65T>A NP_000466.2:n.1168+65T>A
NM_000475.5:c.1168+65T>A MANE Select NP_000466.2:n.1168+65T>A