Canonical Allele Identifier: CA412799817

Gene: RBM10

Linked Data

• ClinVar Variation Id: 520756
• ClinVar RCV Id: RCV000624120 ; RCV003574789
• dbSNP Id: rs1556778373
• MyVariant Identifiers: chrX:g.47039648A>C (hg19) ; chrX:g.47180249A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47180249A>C , CM000685.2:g.47180249A>C	GRCh38
NC_000023.10:g.47039648A>C , CM000685.1:g.47039648A>C	GRCh37
NC_000023.9:g.46924592A>C	NCBI36
NG_012548.1:g.40018A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377604.8:c.1100A>C MANE Select	ENSP00000366829.3:p.His367Pro
ENST00000329236.8:c.1295A>C	ENSP00000328848.8:p.His432Pro
ENST00000345781.10:c.869A>C	ENSP00000329659.6:p.His290Pro
ENST00000377604.7:c.1100A>C	ENSP00000366829.3:p.His367Pro
ENST00000478410.1:n.475A>C
ENST00000496012.6:n.169-966A>C
ENST00000628161.2:c.866A>C	ENSP00000486115.1:p.His289Pro
NM_001204466.1:c.869A>C	NP_001191395.1:p.His290Pro
NM_001204467.1:c.1097A>C	NP_001191396.1:p.His366Pro
NM_001204468.1:c.1295A>C	NP_001191397.1:p.His432Pro
NM_005676.4:c.1100A>C	NP_005667.2:p.His367Pro
NM_152856.2:c.866A>C	NP_690595.1:p.His289Pro
XM_005272677.3:c.1292A>C	XP_005272734.1:p.His431Pro
XM_005272678.3:c.1064A>C	XP_005272735.1:p.His355Pro
XM_005272679.3:c.1061A>C	XP_005272736.1:p.His354Pro
XM_006724563.1:c.491A>C	XP_006724626.1:p.His164Pro
XM_011543989.1:c.164A>C	XP_011542291.1:p.His55Pro
XM_005272677.4:c.1292A>C	XP_005272734.1:p.His431Pro
XM_005272678.4:c.1064A>C	XP_005272735.1:p.His355Pro
XM_005272679.4:c.1061A>C	XP_005272736.1:p.His354Pro
XM_017029884.2:c.491A>C	XP_016885373.1:p.His164Pro
XM_017029885.1:c.488A>C	XP_016885374.1:p.His163Pro
XM_024452457.1:c.1295A>C	XP_024308225.1:p.His432Pro
XM_024452458.1:c.1292A>C	XP_024308226.1:p.His431Pro
XM_024452459.1:c.1100A>C	XP_024308227.1:p.His367Pro
XM_024452460.1:c.1097A>C	XP_024308228.1:p.His366Pro
XM_024452461.1:c.1064A>C	XP_024308229.1:p.His355Pro
XM_024452462.1:c.869A>C	XP_024308230.1:p.His290Pro
XM_024452463.1:c.491A>C	XP_024308231.1:p.His164Pro
XM_024452464.1:c.491A>C	XP_024308232.1:p.His164Pro
XM_024452465.1:c.164A>C	XP_024308233.1:p.His55Pro
NM_005676.5:c.1100A>C MANE Select	NP_005667.2:p.His367Pro
NM_001204466.2:c.869A>C	NP_001191395.1:p.His290Pro
NM_001204467.2:c.1097A>C	NP_001191396.1:p.His366Pro
NM_152856.3:c.866A>C	NP_690595.1:p.His289Pro
NM_001204468.2:c.1295A>C	NP_001191397.1:p.His432Pro