Canonical Allele Identifier: CA406029872

Gene: RPS19

Linked Data

• ClinVar Variation Id: 463372
• ClinVar RCV Id: RCV000538681 ; RCV001702674 ; RCV003900162
• dbSNP Id: rs1555841301
• MyVariant Identifiers: chr19:g.42373113G>A (hg19) ; chr19:g.41869043G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869043G>A , CM000681.2:g.41869043G>A	GRCh38
NC_000019.9:g.42373113G>A , CM000681.1:g.42373113G>A	GRCh37
NC_000019.8:g.47064953G>A	NCBI36
NG_007080.2:g.14126G>A
NG_007080.3:g.14126G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.198G>A	ENSP00000469798.1:p.Ala66=
ENST00000598742.6:c.185G>A MANE Select	ENSP00000470972.1:p.Arg62Gln
ENST00000600467.6:c.185G>A	ENSP00000469228.2:p.Arg62Gln
ENST00000221975.6:c.-38G>A	ENSP00000221975.2:n.-38G>A
ENST00000593863.5:c.185G>A	ENSP00000470004.1:p.Arg62Gln
ENST00000598261.1:c.198G>A	ENSP00000469798.1:p.Ala66=
ENST00000598399.1:c.1023G>A	ENSP00000472660.1:n.1023G>A
ENST00000598742.5:c.185G>A	ENSP00000470972.1:p.Arg62Gln
ENST00000600467.5:c.185G>A	ENSP00000469228.1:p.Arg62Gln
ENST00000601492.5:c.266G>A	ENSP00000471621.1:p.Arg89Gln
NM_001022.3:c.185G>A	NP_001013.1:p.Arg62Gln
NM_001321483.1:c.185G>A	NP_001308412.1:p.Arg62Gln
NM_001321484.1:c.185G>A	NP_001308413.1:p.Arg62Gln
NM_001321485.1:c.198G>A	NP_001308414.1:p.Ala66=
XM_017027113.2:c.185G>A	XP_016882602.1:p.Arg62Gln
NM_001022.4:c.185G>A MANE Select	NP_001013.1:p.Arg62Gln
NM_001321483.2:c.185G>A	NP_001308412.1:p.Arg62Gln
NM_001321484.2:c.185G>A	NP_001308413.1:p.Arg62Gln
NM_001321485.2:c.198G>A	NP_001308414.1:p.Ala66=