Canonical Allele Identifier: CA121627

Gene: RBM10

Linked Data

• ClinVar Variation Id: 11644
• ClinVar RCV Id: RCV000012410
• dbSNP Id: rs267607000
• gnomAD v2: X-47039892-G-A
• MyVariant Identifiers: chrX:g.47039892G>A (hg19) ; chrX:g.47180493G>A (hg38)
• PubMed: PMID:20451169

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47180493G>A , CM000685.2:g.47180493G>A	GRCh38
NC_000023.10:g.47039892G>A , CM000685.1:g.47039892G>A	GRCh37
NC_000023.9:g.46924836G>A	NCBI36
NG_012548.1:g.40262G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000377604.8:c.1235G>A MANE Select	ENSP00000366829.3:p.Trp412Ter
ENST00000329236.8:c.1430G>A	ENSP00000328848.8:p.Trp477Ter
ENST00000345781.10:c.1004G>A	ENSP00000329659.6:p.Trp335Ter
ENST00000377604.7:c.1235G>A	ENSP00000366829.3:p.Trp412Ter
ENST00000478410.1:n.610G>A
ENST00000496012.6:n.169-722G>A
ENST00000628161.2:c.1001G>A	ENSP00000486115.1:p.Trp334Ter
NM_001204466.1:c.1004G>A	NP_001191395.1:p.Trp335Ter
NM_001204467.1:c.1232G>A	NP_001191396.1:p.Trp411Ter
NM_001204468.1:c.1430G>A	NP_001191397.1:p.Trp477Ter
NM_005676.4:c.1235G>A	NP_005667.2:p.Trp412Ter
NM_152856.2:c.1001G>A	NP_690595.1:p.Trp334Ter
XM_005272677.3:c.1427G>A	XP_005272734.1:p.Trp476Ter
XM_005272678.3:c.1199G>A	XP_005272735.1:p.Trp400Ter
XM_005272679.3:c.1196G>A	XP_005272736.1:p.Trp399Ter
XM_006724563.1:c.626G>A	XP_006724626.1:p.Trp209Ter
XM_011543989.1:c.299G>A	XP_011542291.1:p.Trp100Ter
XM_005272677.4:c.1427G>A	XP_005272734.1:p.Trp476Ter
XM_005272678.4:c.1199G>A	XP_005272735.1:p.Trp400Ter
XM_005272679.4:c.1196G>A	XP_005272736.1:p.Trp399Ter
XM_017029884.2:c.626G>A	XP_016885373.1:p.Trp209Ter
XM_017029885.1:c.623G>A	XP_016885374.1:p.Trp208Ter
XM_024452457.1:c.1430G>A	XP_024308225.1:p.Trp477Ter
XM_024452458.1:c.1427G>A	XP_024308226.1:p.Trp476Ter
XM_024452459.1:c.1235G>A	XP_024308227.1:p.Trp412Ter
XM_024452460.1:c.1232G>A	XP_024308228.1:p.Trp411Ter
XM_024452461.1:c.1199G>A	XP_024308229.1:p.Trp400Ter
XM_024452462.1:c.1004G>A	XP_024308230.1:p.Trp335Ter
XM_024452463.1:c.626G>A	XP_024308231.1:p.Trp209Ter
XM_024452464.1:c.626G>A	XP_024308232.1:p.Trp209Ter
XM_024452465.1:c.299G>A	XP_024308233.1:p.Trp100Ter
NM_005676.5:c.1235G>A MANE Select	NP_005667.2:p.Trp412Ter
NM_001204466.2:c.1004G>A	NP_001191395.1:p.Trp335Ter
NM_001204467.2:c.1232G>A	NP_001191396.1:p.Trp411Ter
NM_152856.3:c.1001G>A	NP_690595.1:p.Trp334Ter
NM_001204468.2:c.1430G>A	NP_001191397.1:p.Trp477Ter