Canonical Allele Identifier: CA10376334
Gene: NR0B1 HGNC NCBI

Linked Data

dbSNP Id: rs748693035
ExAC: X:30326541 G / C
gnomAD v2: X-30326541-G-C
gnomAD v4: X-30308424-G-C
MyVariant Identifiers: chrX:g.30326541G>C (hg19) chrX:g.30308424G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.30308424G>C , CM000685.2:g.30308424G>C GRCh38
NC_000023.10:g.30326541G>C , CM000685.1:g.30326541G>C GRCh37
NC_000023.9:g.30236462G>C NCBI36
NG_009814.1:g.5955C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000378970.5:c.940C>G MANE Select ENSP00000368253.4:p.Pro314Ala
ENST00000378963.1:c.55C>G ENSP00000368246.1:p.Pro19Ala
ENST00000378970.4:c.940C>G ENSP00000368253.4:p.Pro314Ala
NM_000475.4:c.940C>G NP_000466.2:p.Pro314Ala
NM_000475.5:c.940C>G MANE Select NP_000466.2:p.Pro314Ala
Search 100 bp 5'
Search 100 bp 3'