Canonical Allele Identifier: CA412546917
Gene: NR0B1 HGNC NCBI

Linked Data

gnomAD v4: X-30308352-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308352T>C , CM000685.2:g.30308352T>C GRCh38
NC_000023.10:g.30326469T>C , CM000685.1:g.30326469T>C GRCh37
NC_000023.9:g.30236390T>C NCBI36
NG_009814.1:g.6027A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.1012A>G MANE Select ENSP00000368253.4:p.Thr338Ala
ENST00000378963.1:c.127A>G ENSP00000368246.1:p.Thr43Ala
ENST00000378970.4:c.1012A>G ENSP00000368253.4:p.Thr338Ala
NM_000475.4:c.1012A>G NP_000466.2:p.Thr338Ala
NM_000475.5:c.1012A>G MANE Select NP_000466.2:p.Thr338Ala