Canonical Allele Identifier: CA515946132
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs1926566937
MyVariant Identifiers: chrX:g.30326536G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308419G>A , CM000685.2:g.30308419G>A GRCh38
NC_000023.10:g.30326536G>A , CM000685.1:g.30326536G>A GRCh37
NC_000023.9:g.30236457G>A NCBI36
NG_009814.1:g.5960C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.945C>T MANE Select ENSP00000368253.4:p.Ser315=
ENST00000378963.1:c.60C>T ENSP00000368246.1:p.Ser20=
ENST00000378970.4:c.945C>T ENSP00000368253.4:p.Ser315=
NM_000475.4:c.945C>T NP_000466.2:p.Ser315=
NM_000475.5:c.945C>T MANE Select NP_000466.2:p.Ser315=
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