Canonical Allele Identifier: CA412546700
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308307-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308307G>A , CM000685.2:g.30308307G>A GRCh38
NC_000023.10:g.30326424G>A , CM000685.1:g.30326424G>A GRCh37
NC_000023.9:g.30236345G>A NCBI36
NG_009814.1:g.6072C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1057C>T MANE Select ENSP00000368253.4:p.Pro353Ser
ENST00000378963.1:c.172C>T ENSP00000368246.1:p.Pro58Ser
ENST00000378970.4:c.1057C>T ENSP00000368253.4:p.Pro353Ser
NM_000475.4:c.1057C>T NP_000466.2:p.Pro353Ser
NM_000475.5:c.1057C>T MANE Select NP_000466.2:p.Pro353Ser