Canonical Allele Identifier: CA412547998
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs1258224361
gnomAD v2: X-30326747-G-A
gnomAD v4: X-30308630-G-A
MyVariant Identifiers: chrX:g.30326747G>A (hg19) chrX:g.30308630G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308630G>A , CM000685.2:g.30308630G>A GRCh38
NC_000023.10:g.30326747G>A , CM000685.1:g.30326747G>A GRCh37
NC_000023.9:g.30236668G>A NCBI36
NG_009814.1:g.5749C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378970.5:c.734C>T MANE Select ENSP00000368253.4:p.Pro245Leu
ENST00000378970.4:c.734C>T ENSP00000368253.4:p.Pro245Leu
NM_000475.4:c.734C>T NP_000466.2:p.Pro245Leu
NM_000475.5:c.734C>T MANE Select NP_000466.2:p.Pro245Leu
Search 100 bp 5'
Search 100 bp 3'