Canonical Allele Identifier: CA9465374

Gene: RPS19

Linked Data

• ClinVar Variation Id: 1591451
• ClinVar RCV Id: RCV002096215 ; RCV002486875
• dbSNP Id: rs781789110
• ExAC: 19:42373295 TA / T
• gnomAD v2: 19-42373295-TA-T
• gnomAD v3: 19-41869225-TA-T
• gnomAD v4: 19-41869225-TA-T
• MyVariant Identifiers: chr19:g.42373296del (hg19) ; chr19:g.41869226del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869226del , CM000681.2:g.41869226del	GRCh38
NC_000019.9:g.42373296del , CM000681.1:g.42373296del	GRCh37
NC_000019.8:g.47065136del	NCBI36
NG_007080.2:g.14309del
NG_007080.3:g.14309del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.356+12del MANE Select	ENSP00000470972.1:n.356+12del
ENST00000600467.6:c.356+12del	ENSP00000469228.2:n.356+12del
ENST00000221975.6:c.134+12del	ENSP00000221975.2:n.134+12del
ENST00000593863.5:c.356+12del	ENSP00000470004.1:n.356+12del
ENST00000598742.5:c.356+12del	ENSP00000470972.1:n.356+12del
NM_001022.3:c.356+12del	NP_001013.1:n.356+12del
NM_001321483.1:c.356+12del	NP_001308412.1:n.356+12del
NM_001321484.1:c.356+12del	NP_001308413.1:n.356+12del
NM_001321485.1:c.369+12del	NP_001308414.1:n.369+12del
XM_017027113.2:c.356+12del	XP_016882602.1:n.356+12del
NM_001022.4:c.356+12del MANE Select	NP_001013.1:n.356+12del
NM_001321483.2:c.356+12del	NP_001308412.1:n.356+12del
NM_001321484.2:c.356+12del	NP_001308413.1:n.356+12del
NM_001321485.2:c.369+12del	NP_001308414.1:n.369+12del