Canonical Allele Identifier: CA406030465

Gene: RPS19

Linked Data

• ClinVar Variation Id: 1338146
• ClinVar RCV Id: RCV001822744
• dbSNP Id: rs2123284072
• MyVariant Identifiers: chr19:g.42373213C>T (hg19) ; chr19:g.41869143C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869143C>T , CM000681.2:g.41869143C>T	GRCh38
NC_000019.9:g.42373213C>T , CM000681.1:g.42373213C>T	GRCh37
NC_000019.8:g.47065053C>T	NCBI36
NG_007080.2:g.14226C>T
NG_007080.3:g.14226C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.298C>T	ENSP00000469798.1:p.Leu100Phe
ENST00000598742.6:c.285C>T MANE Select	ENSP00000470972.1:p.Gly95=
ENST00000600467.6:c.285C>T	ENSP00000469228.2:p.Gly95=
ENST00000221975.6:c.63C>T	ENSP00000221975.2:p.Gly21=
ENST00000593863.5:c.285C>T	ENSP00000470004.1:p.Gly95=
ENST00000598261.1:c.298C>T	ENSP00000469798.1:p.Leu100Phe
ENST00000598399.1:c.1123C>T	ENSP00000472660.1:n.1123C>T
ENST00000598742.5:c.285C>T	ENSP00000470972.1:p.Gly95=
NM_001022.3:c.285C>T	NP_001013.1:p.Gly95=
NM_001321483.1:c.285C>T	NP_001308412.1:p.Gly95=
NM_001321484.1:c.285C>T	NP_001308413.1:p.Gly95=
NM_001321485.1:c.298C>T	NP_001308414.1:p.Leu100Phe
XM_017027113.2:c.285C>T	XP_016882602.1:p.Gly95=
NM_001022.4:c.285C>T MANE Select	NP_001013.1:p.Gly95=
NM_001321483.2:c.285C>T	NP_001308412.1:p.Gly95=
NM_001321484.2:c.285C>T	NP_001308413.1:p.Gly95=
NM_001321485.2:c.298C>T	NP_001308414.1:p.Leu100Phe