Canonical Allele Identifier: CA412789122
Community Standard Title: NM_005676.5(RBM10):c.143A>C (p.Tyr48Ser)
Gene: RBM10 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.47169440A>C , CM000685.2:g.47169440A>C GRCh38
NC_000023.10:g.47028839A>C , CM000685.1:g.47028839A>C GRCh37
NC_000023.9:g.46913783A>C NCBI36
NG_012548.1:g.29209A>C

Transcript Alleles

HGVS Amino-acid Change
NM_005676.5:c.143A>C MANE Select NP_005667.2:p.Tyr48Ser
ENST00000377604.8:c.143A>C MANE Select ENSP00000366829.3:p.Tyr48Ser
NM_001204466.1:c.143A>C NP_001191395.1:p.Tyr48Ser
NM_001204466.2:c.143A>C NP_001191395.1:p.Tyr48Ser
NM_001204467.1:c.143A>C NP_001191396.1:p.Tyr48Ser
NM_001204467.2:c.143A>C NP_001191396.1:p.Tyr48Ser
NM_001204468.1:c.338A>C NP_001191397.1:p.Tyr113Ser
NM_001204468.2:c.338A>C NP_001191397.1:p.Tyr113Ser
NM_005676.4:c.143A>C NP_005667.2:p.Tyr48Ser
NM_152856.2:c.143A>C NP_690595.1:p.Tyr48Ser
NM_152856.3:c.143A>C NP_690595.1:p.Tyr48Ser
ENST00000329236.8:c.338A>C ENSP00000328848.8:p.Tyr113Ser
ENST00000345781.10:c.143A>C ENSP00000329659.6:p.Tyr48Ser
ENST00000377604.7:c.143A>C ENSP00000366829.3:p.Tyr48Ser
ENST00000628161.2:c.143A>C ENSP00000486115.1:p.Tyr48Ser
XM_005272677.3:c.338A>C XP_005272734.1:p.Tyr113Ser
XM_005272677.4:c.338A>C XP_005272734.1:p.Tyr113Ser
XM_005272678.3:c.338A>C XP_005272735.1:p.Tyr113Ser
XM_005272678.4:c.338A>C XP_005272735.1:p.Tyr113Ser
XM_005272679.3:c.338A>C XP_005272736.1:p.Tyr113Ser
XM_005272679.4:c.338A>C XP_005272736.1:p.Tyr113Ser
XM_006724563.1:c.-162A>C XP_006724626.1:n.-162A>C
XM_017029884.2:c.-393A>C XP_016885373.1:n.-393A>C
XM_017029885.1:c.-393A>C XP_016885374.1:n.-393A>C
XM_024452457.1:c.338A>C XP_024308225.1:p.Tyr113Ser
XM_024452458.1:c.338A>C XP_024308226.1:p.Tyr113Ser
XM_024452459.1:c.143A>C XP_024308227.1:p.Tyr48Ser
XM_024452460.1:c.143A>C XP_024308228.1:p.Tyr48Ser
XM_024452461.1:c.338A>C XP_024308229.1:p.Tyr113Ser
XM_024452462.1:c.143A>C XP_024308230.1:p.Tyr48Ser
XM_024452463.1:c.-393A>C XP_024308231.1:n.-393A>C
XM_024452464.1:c.-162A>C XP_024308232.1:n.-162A>C