Canonical Allele Identifier: CA130764
Gene: RPS19 HGNC NCBI

Linked Data

ClinVar Variation Id: 6315
ClinVar RCV Id: RCV000033184 RCV001237459
dbSNP Id: rs104894716
MyVariant Identifiers: chr19:g.42365207G>A (hg19) chr19:g.41861138G>A (hg38)
PubMed: PMID:10598818
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41861138G>A , CM000681.2:g.41861138G>A GRCh38
NC_000019.9:g.42365207G>A , CM000681.1:g.42365207G>A GRCh37
NC_000019.8:g.47057047G>A NCBI36
NG_007080.2:g.6220G>A
NG_007080.3:g.6221G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000598261.2:c.98G>A ENSP00000469798.1:p.Trp33Ter
ENST00000598742.6:c.98G>A MANE Select ENSP00000470972.1:p.Trp33Ter
ENST00000600467.6:c.98G>A ENSP00000469228.2:p.Trp33Ter
ENST00000221975.6:c.-125G>A ENSP00000221975.2:n.-125G>A
ENST00000593863.5:c.98G>A ENSP00000470004.1:p.Trp33Ter
ENST00000598261.1:c.98G>A ENSP00000469798.1:p.Trp33Ter
ENST00000598399.1:c.95G>A ENSP00000472660.1:p.Trp32Ter
ENST00000598466.5:n.133G>A
ENST00000598742.5:c.98G>A ENSP00000470972.1:p.Trp33Ter
ENST00000600467.5:c.98G>A ENSP00000469228.1:p.Trp33Ter
ENST00000601492.5:c.98G>A ENSP00000471621.1:p.Trp33Ter
NM_001022.3:c.98G>A NP_001013.1:p.Trp33Ter
NM_001321483.1:c.98G>A NP_001308412.1:p.Trp33Ter
NM_001321484.1:c.98G>A NP_001308413.1:p.Trp33Ter
NM_001321485.1:c.98G>A NP_001308414.1:p.Trp33Ter
XM_017027113.2:c.98G>A XP_016882602.1:p.Trp33Ter
NM_001022.4:c.98G>A MANE Select NP_001013.1:p.Trp33Ter
NM_001321483.2:c.98G>A NP_001308412.1:p.Trp33Ter
NM_001321484.2:c.98G>A NP_001308413.1:p.Trp33Ter
NM_001321485.2:c.98G>A NP_001308414.1:p.Trp33Ter
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