Canonical Allele Identifier: CA2336668920
Gene: RPS19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41869198_41869199delinsGA , CM000681.2:g.41869198_41869199delinsGA GRCh38
NC_000019.9:g.42373268_42373269delinsGA , CM000681.1:g.42373268_42373269delinsGA GRCh37
NC_000019.8:g.47065108_47065109delinsGA NCBI36
NG_007080.2:g.14281_14282delinsGA
NG_007080.3:g.14281_14282delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000598742.6:c.340_341delinsGA MANE Select ENSP00000470972.1:p.Glu114=
ENST00000600467.6:c.340_341delinsGA ENSP00000469228.2:p.Glu114=
ENST00000221975.6:c.118_119delinsGA ENSP00000221975.2:p.Glu40=
ENST00000593863.5:c.340_341delinsGA ENSP00000470004.1:p.Glu114=
ENST00000598742.5:c.340_341delinsGA ENSP00000470972.1:p.Glu114=
NM_001022.3:c.340_341delinsGA NP_001013.1:p.Glu114=
NM_001321483.1:c.340_341delinsGA NP_001308412.1:p.Glu114=
NM_001321484.1:c.340_341delinsGA NP_001308413.1:p.Glu114=
NM_001321485.1:c.353_354delinsGA NP_001308414.1:p.Gly118=
XM_017027113.2:c.340_341delinsGA XP_016882602.1:p.Glu114=
NM_001022.4:c.340_341delinsGA MANE Select NP_001013.1:p.Glu114=
NM_001321483.2:c.340_341delinsGA NP_001308412.1:p.Glu114=
NM_001321484.2:c.340_341delinsGA NP_001308413.1:p.Glu114=
NM_001321485.2:c.353_354delinsGA NP_001308414.1:p.Gly118=