Canonical Allele Identifier: CA915951693
Gene: RPS19 HGNC NCBI

Linked Data

ClinVar Variation Id: 640546
ClinVar RCV Id: RCV000793592
dbSNP Id: rs1600621092

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41869033_41869034delinsCT , CM000681.2:g.41869033_41869034delinsCT GRCh38
NC_000019.9:g.42373103_42373104delinsCT , CM000681.1:g.42373103_42373104delinsCT GRCh37
NC_000019.8:g.47064943_47064944delinsCT NCBI36
NG_007080.2:g.14116_14117delinsCT
NG_007080.3:g.14116_14117delinsCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000598261.2:c.188_189delinsCT ENSP00000469798.1:p.Phe63Ser
ENST00000598742.6:c.175_176delinsCT MANE Select ENSP00000470972.1:p.Ser59Leu
ENST00000600467.6:c.175_176delinsCT ENSP00000469228.2:p.Ser59Leu
ENST00000221975.6:c.-48_-47delinsCT ENSP00000221975.2:n.-48_-47delinsCT
ENST00000593863.5:c.175_176delinsCT ENSP00000470004.1:p.Ser59Leu
ENST00000598261.1:c.188_189delinsCT ENSP00000469798.1:p.Phe63Ser
ENST00000598399.1:c.1013_1014delinsCT ENSP00000472660.1:n.1013_1014delinsCT
ENST00000598742.5:c.175_176delinsCT ENSP00000470972.1:p.Ser59Leu
ENST00000600467.5:c.175_176delinsCT ENSP00000469228.1:p.Ser59Leu
ENST00000601492.5:c.256_257delinsCT ENSP00000471621.1:p.Ser86Leu
NM_001022.3:c.175_176delinsCT NP_001013.1:p.Ser59Leu
NM_001321483.1:c.175_176delinsCT NP_001308412.1:p.Ser59Leu
NM_001321484.1:c.175_176delinsCT NP_001308413.1:p.Ser59Leu
NM_001321485.1:c.188_189delinsCT NP_001308414.1:p.Phe63Ser
XM_017027113.2:c.175_176delinsCT XP_016882602.1:p.Ser59Leu
NM_001022.4:c.175_176delinsCT MANE Select NP_001013.1:p.Ser59Leu
NM_001321483.2:c.175_176delinsCT NP_001308412.1:p.Ser59Leu
NM_001321484.2:c.175_176delinsCT NP_001308413.1:p.Ser59Leu
NM_001321485.2:c.188_189delinsCT NP_001308414.1:p.Phe63Ser