Canonical Allele Identifier: CA10528730

Gene: RBMX

Linked Data

• ClinVar Variation Id: 403368
• ClinVar RCV Id: RCV000455488
• dbSNP Id: rs150079822
• ExAC: X:135956586 T / C
• gnomAD v2: X-135956586-T-C
• gnomAD v3: X-136874427-T-C
• gnomAD v4: X-136874427-T-C
• MyVariant Identifiers: chrX:g.135956586T>C (hg19) ; chrX:g.136874427T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.136874427T>C , CM000685.2:g.136874427T>C	GRCh38
NC_000023.10:g.135956586T>C , CM000685.1:g.135956586T>C	GRCh37
NC_000023.9:g.135784252T>C	NCBI36
NG_012918.1:g.11354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320676.11:c.891A>G MANE Select	ENSP00000359645.3:p.Thr297=
ENST00000419968.6:c.869+659A>G
ENST00000431446.7:c.540+659A>G	ENSP00000411989.3:n.540+659A>G
ENST00000464781.5:c.*482A>G	ENSP00000456048.1:n.*482A>G
ENST00000562646.5:c.*633A>G	ENSP00000457051.1:n.*633A>G
ENST00000565438.1:c.507A>G	ENSP00000457866.1:p.Thr169=
ENST00000568578.5:c.*1115A>G	ENSP00000457691.1:n.*1115A>G
NM_001164803.1:c.540+659A>G	NP_001158275.1:n.540+659A>G
NM_002139.3:c.891A>G	NP_002130.2:p.Thr297=
NR_028476.1:n.929A>G
NR_028477.1:n.1136A>G
NM_002139.4:c.891A>G MANE Select	NP_002130.2:p.Thr297=
NM_001164803.2:c.540+659A>G	NP_001158275.1:n.540+659A>G
NR_028476.2:n.874A>G
NR_028477.2:n.1081A>G