Canonical Allele Identifier: CA2693383150
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308175-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308175G>A , CM000685.2:g.30308175G>A GRCh38
NC_000023.10:g.30326292G>A , CM000685.1:g.30326292G>A GRCh37
NC_000023.9:g.30236213G>A NCBI36
NG_009814.1:g.6204C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.1168+21C>T MANE Select ENSP00000368253.4:n.1168+21C>T
ENST00000378963.1:c.283+21C>T ENSP00000368246.1:n.283+21C>T
ENST00000378970.4:c.1168+21C>T ENSP00000368253.4:n.1168+21C>T
NM_000475.4:c.1168+21C>T NP_000466.2:n.1168+21C>T
NM_000475.5:c.1168+21C>T MANE Select NP_000466.2:n.1168+21C>T
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