Canonical Allele Identifier: CA633185009

Gene: RPS19

Linked Data

• dbSNP Id: rs1555841373
• gnomAD v2: 19-42373268-GA-G
• gnomAD v4: 19-41869198-GA-G
• MyVariant Identifiers: chr19:g.42373269del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869202del , CM000681.2:g.41869202del	GRCh38
NC_000019.9:g.42373272del , CM000681.1:g.42373272del	GRCh37
NC_000019.8:g.47065112del	NCBI36
NG_007080.2:g.14285del
NG_007080.3:g.14285del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.344del MANE Select	ENSP00000470972.1:p.Lys115ArgfsTer9
ENST00000600467.6:c.344del	ENSP00000469228.2:p.Lys115ArgfsTer9
ENST00000221975.6:c.122del	ENSP00000221975.2:p.Lys41ArgfsTer9
ENST00000593863.5:c.344del	ENSP00000470004.1:p.Lys115ArgfsTer9
ENST00000598742.5:c.344del	ENSP00000470972.1:p.Lys115ArgfsTer9
NM_001022.3:c.344del	NP_001013.1:p.Lys115ArgfsTer9
NM_001321483.1:c.344del	NP_001308412.1:p.Lys115ArgfsTer9
NM_001321484.1:c.344del	NP_001308413.1:p.Lys115ArgfsTer9
NM_001321485.1:c.357del	NP_001308414.1:p.Gly120AspfsTer?
XM_017027113.2:c.344del	XP_016882602.1:p.Lys115ArgfsTer9
NM_001022.4:c.344del MANE Select	NP_001013.1:p.Lys115ArgfsTer9
NM_001321483.2:c.344del	NP_001308412.1:p.Lys115ArgfsTer9
NM_001321484.2:c.344del	NP_001308413.1:p.Lys115ArgfsTer9
NM_001321485.2:c.357del	NP_001308414.1:p.Gly120AspfsTer?