Canonical Allele Identifier: CA406030372

Gene: RPS19

Linked Data

• ClinVar Variation Id: 2118121
• ClinVar RCV Id: RCV003030319
• MyVariant Identifiers: chr19:g.42373194C>G (hg19) ; chr19:g.41869124C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869124C>G , CM000681.2:g.41869124C>G	GRCh38
NC_000019.9:g.42373194C>G , CM000681.1:g.42373194C>G	GRCh37
NC_000019.8:g.47065034C>G	NCBI36
NG_007080.2:g.14207C>G
NG_007080.3:g.14207C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.279C>G	ENSP00000469798.1:p.Ala93=
ENST00000598742.6:c.266C>G MANE Select	ENSP00000470972.1:p.Pro89Arg
ENST00000600467.6:c.266C>G	ENSP00000469228.2:p.Pro89Arg
ENST00000221975.6:c.44C>G	ENSP00000221975.2:p.Pro15Arg
ENST00000593863.5:c.266C>G	ENSP00000470004.1:p.Pro89Arg
ENST00000598261.1:c.279C>G	ENSP00000469798.1:p.Ala93=
ENST00000598399.1:c.1104C>G	ENSP00000472660.1:n.1104C>G
ENST00000598742.5:c.266C>G	ENSP00000470972.1:p.Pro89Arg
NM_001022.3:c.266C>G	NP_001013.1:p.Pro89Arg
NM_001321483.1:c.266C>G	NP_001308412.1:p.Pro89Arg
NM_001321484.1:c.266C>G	NP_001308413.1:p.Pro89Arg
NM_001321485.1:c.279C>G	NP_001308414.1:p.Ala93=
XM_017027113.2:c.266C>G	XP_016882602.1:p.Pro89Arg
NM_001022.4:c.266C>G MANE Select	NP_001013.1:p.Pro89Arg
NM_001321483.2:c.266C>G	NP_001308412.1:p.Pro89Arg
NM_001321484.2:c.266C>G	NP_001308413.1:p.Pro89Arg
NM_001321485.2:c.279C>G	NP_001308414.1:p.Ala93=