Canonical Allele Identifier: CA130768

Gene: RPS19

Linked Data

• ClinVar Variation Id: 6317
• ClinVar RCV Id: RCV000033186
• dbSNP Id: rs786200935
• MyVariant Identifiers: chr19:g.42373235del (hg19) ; chr19:g.41869165del (hg38)
• PubMed: PMID:10598818

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869165del , CM000681.2:g.41869165del	GRCh38
NC_000019.9:g.42373235del , CM000681.1:g.42373235del	GRCh37
NC_000019.8:g.47065075del	NCBI36
NG_007080.2:g.14248del
NG_007080.3:g.14248del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.307del MANE Select	ENSP00000470972.1:p.Val103SerfsTer8
ENST00000600467.6:c.307del	ENSP00000469228.2:p.Val103SerfsTer8
ENST00000221975.6:c.85del	ENSP00000221975.2:p.Val29SerfsTer8
ENST00000593863.5:c.307del	ENSP00000470004.1:p.Val103SerfsTer8
ENST00000598399.1:c.1145del	ENSP00000472660.1:n.1145del
ENST00000598742.5:c.307del	ENSP00000470972.1:p.Val103SerfsTer8
NM_001022.3:c.307del	NP_001013.1:p.Val103SerfsTer8
NM_001321483.1:c.307del	NP_001308412.1:p.Val103SerfsTer8
NM_001321484.1:c.307del	NP_001308413.1:p.Val103SerfsTer8
NM_001321485.1:c.320del	NP_001308414.1:p.Gly107ValfsTer?
XM_017027113.2:c.307del	XP_016882602.1:p.Val103SerfsTer8
NM_001022.4:c.307del MANE Select	NP_001013.1:p.Val103SerfsTer8
NM_001321483.2:c.307del	NP_001308412.1:p.Val103SerfsTer8
NM_001321484.2:c.307del	NP_001308413.1:p.Val103SerfsTer8
NM_001321485.2:c.320del	NP_001308414.1:p.Gly107ValfsTer?