Canonical Allele Identifier: CA412546757
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308319-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308319C>A , CM000685.2:g.30308319C>A GRCh38
NC_000023.10:g.30326436C>A , CM000685.1:g.30326436C>A GRCh37
NC_000023.9:g.30236357C>A NCBI36
NG_009814.1:g.6060G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1045G>T MANE Select ENSP00000368253.4:p.Ala349Ser
ENST00000378963.1:c.160G>T ENSP00000368246.1:p.Ala54Ser
ENST00000378970.4:c.1045G>T ENSP00000368253.4:p.Ala349Ser
NM_000475.4:c.1045G>T NP_000466.2:p.Ala349Ser
NM_000475.5:c.1045G>T MANE Select NP_000466.2:p.Ala349Ser