Canonical Allele Identifier: CA130769

Gene: RPS19

Linked Data

• ClinVar Variation Id: 6320
• ClinVar RCV Id: RCV000033189 ; RCV002512845
• dbSNP Id: rs786200936
• MyVariant Identifiers: chr19:g.42373792G>A (hg19) ; chr19:g.41869722G>A (hg38)
• PubMed: PMID:10590074 ; PMID:12586610 ; PMID:17517689

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869722G>A , CM000681.2:g.41869722G>A	GRCh38
NC_000019.9:g.42373792G>A , CM000681.1:g.42373792G>A	GRCh37
NC_000019.8:g.47065632G>A	NCBI36
NG_007080.2:g.14805G>A
NG_007080.3:g.14805G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.380G>A MANE Select	ENSP00000470972.1:p.Gly127Glu
ENST00000600467.6:c.380G>A	ENSP00000469228.2:p.Gly127Glu
ENST00000221975.6:c.158G>A	ENSP00000221975.2:p.Gly53Glu
ENST00000593863.5:c.380G>A	ENSP00000470004.1:p.Gly127Glu
ENST00000598742.5:c.380G>A	ENSP00000470972.1:p.Gly127Glu
NM_001022.3:c.380G>A	NP_001013.1:p.Gly127Glu
NM_001321483.1:c.380G>A	NP_001308412.1:p.Gly127Glu
NM_001321484.1:c.380G>A	NP_001308413.1:p.Gly127Glu
NM_001321485.1:c.393G>A	NP_001308414.1:p.Gly131=
XM_017027113.2:c.380G>A	XP_016882602.1:p.Gly127Glu
NM_001022.4:c.380G>A MANE Select	NP_001013.1:p.Gly127Glu
NM_001321483.2:c.380G>A	NP_001308412.1:p.Gly127Glu
NM_001321484.2:c.380G>A	NP_001308413.1:p.Gly127Glu
NM_001321485.2:c.393G>A	NP_001308414.1:p.Gly131=