Canonical Allele Identifier: CA658656788

Gene: RPS19

Linked Data

• ClinVar Variation Id: 463373
• ClinVar RCV Id: RCV000553313
• dbSNP Id: rs1555841356
• MyVariant Identifiers: chr19:g.42373224_42373225dup (hg19) ; chr19:g.41869154_41869155dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869154_41869155dup , CM000681.2:g.41869154_41869155dup	GRCh38
NC_000019.9:g.42373224_42373225dup , CM000681.1:g.42373224_42373225dup	GRCh37
NC_000019.8:g.47065064_47065065dup	NCBI36
NG_007080.2:g.14237_14238dup
NG_007080.3:g.14237_14238dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.296_297dup MANE Select	ENSP00000470972.1:p.Ala100TrpfsTer12
ENST00000600467.6:c.296_297dup	ENSP00000469228.2:p.Ala100TrpfsTer12
ENST00000221975.6:c.74_75dup	ENSP00000221975.2:p.Ala26TrpfsTer12
ENST00000593863.5:c.296_297dup	ENSP00000470004.1:p.Ala100TrpfsTer12
ENST00000598399.1:c.1134_1135dup	ENSP00000472660.1:n.1134_1135dup
ENST00000598742.5:c.296_297dup	ENSP00000470972.1:p.Ala100TrpfsTer12
NM_001022.3:c.296_297dup	NP_001013.1:p.Ala100TrpfsTer12
NM_001321483.1:c.296_297dup	NP_001308412.1:p.Ala100TrpfsTer12
NM_001321484.1:c.296_297dup	NP_001308413.1:p.Ala100TrpfsTer12
NM_001321485.1:c.309_310dup	NP_001308414.1:p.Gly104ValfsTer?
XM_017027113.2:c.296_297dup	XP_016882602.1:p.Ala100TrpfsTer12
NM_001022.4:c.296_297dup MANE Select	NP_001013.1:p.Ala100TrpfsTer12
NM_001321483.2:c.296_297dup	NP_001308412.1:p.Ala100TrpfsTer12
NM_001321484.2:c.296_297dup	NP_001308413.1:p.Ala100TrpfsTer12
NM_001321485.2:c.309_310dup	NP_001308414.1:p.Gly104ValfsTer?