Canonical Allele Identifier: CA412793337

Gene: RBM10

Linked Data

• ClinVar Variation Id: 432653
• ClinVar RCV Id: RCV000498839 ; RCV002282181 ; RCV003258830
• dbSNP Id: rs1198280152
• gnomAD v2: X-47032551-G-A
• gnomAD v3: X-47173152-G-A
• gnomAD v4: X-47173152-G-A
• MyVariant Identifiers: chrX:g.47032551G>A (hg19) ; chrX:g.47173152G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.47173152G>A , CM000685.2:g.47173152G>A	GRCh38
NC_000023.10:g.47032551G>A , CM000685.1:g.47032551G>A	GRCh37
NC_000023.9:g.46917495G>A	NCBI36
NG_012548.1:g.32921G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377604.8:c.457G>A MANE Select	ENSP00000366829.3:p.Gly153Ser
ENST00000329236.8:c.652G>A	ENSP00000328848.8:p.Gly218Ser
ENST00000345781.10:c.226G>A	ENSP00000329659.6:p.Gly76Ser
ENST00000377604.7:c.457G>A	ENSP00000366829.3:p.Gly153Ser
ENST00000628161.2:c.226G>A	ENSP00000486115.1:p.Gly76Ser
NM_001204466.1:c.226G>A	NP_001191395.1:p.Gly76Ser
NM_001204467.1:c.457G>A	NP_001191396.1:p.Gly153Ser
NM_001204468.1:c.652G>A	NP_001191397.1:p.Gly218Ser
NM_005676.4:c.457G>A	NP_005667.2:p.Gly153Ser
NM_152856.2:c.226G>A	NP_690595.1:p.Gly76Ser
XM_005272677.3:c.652G>A	XP_005272734.1:p.Gly218Ser
XM_005272678.3:c.421G>A	XP_005272735.1:p.Gly141Ser
XM_005272679.3:c.421G>A	XP_005272736.1:p.Gly141Ser
XM_006724563.1:c.-79G>A	XP_006724626.1:n.-79G>A
XM_005272677.4:c.652G>A	XP_005272734.1:p.Gly218Ser
XM_005272678.4:c.421G>A	XP_005272735.1:p.Gly141Ser
XM_005272679.4:c.421G>A	XP_005272736.1:p.Gly141Ser
XM_017029884.2:c.-79G>A	XP_016885373.1:n.-79G>A
XM_017029885.1:c.-79G>A	XP_016885374.1:n.-79G>A
XM_024452457.1:c.652G>A	XP_024308225.1:p.Gly218Ser
XM_024452458.1:c.652G>A	XP_024308226.1:p.Gly218Ser
XM_024452459.1:c.457G>A	XP_024308227.1:p.Gly153Ser
XM_024452460.1:c.457G>A	XP_024308228.1:p.Gly153Ser
XM_024452461.1:c.421G>A	XP_024308229.1:p.Gly141Ser
XM_024452462.1:c.226G>A	XP_024308230.1:p.Gly76Ser
XM_024452463.1:c.-79G>A	XP_024308231.1:n.-79G>A
XM_024452464.1:c.-79G>A	XP_024308232.1:n.-79G>A
NM_005676.5:c.457G>A MANE Select	NP_005667.2:p.Gly153Ser
NM_001204466.2:c.226G>A	NP_001191395.1:p.Gly76Ser
NM_001204467.2:c.457G>A	NP_001191396.1:p.Gly153Ser
NM_152856.3:c.226G>A	NP_690595.1:p.Gly76Ser
NM_001204468.2:c.652G>A	NP_001191397.1:p.Gly218Ser