Canonical Allele Identifier: CA406030430

Gene: RPS19

Linked Data

• dbSNP Id: rs1555841343
• gnomAD v2: 19-42373203-T-A
• gnomAD v4: 19-41869133-T-A
• MyVariant Identifiers: chr19:g.42373203T>A (hg19) ; chr19:g.41869133T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869133T>A , CM000681.2:g.41869133T>A	GRCh38
NC_000019.9:g.42373203T>A , CM000681.1:g.42373203T>A	GRCh37
NC_000019.8:g.47065043T>A	NCBI36
NG_007080.2:g.14216T>A
NG_007080.3:g.14216T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.288T>A	ENSP00000469798.1:p.Leu96=
ENST00000598742.6:c.275T>A MANE Select	ENSP00000470972.1:p.Phe92Tyr
ENST00000600467.6:c.275T>A	ENSP00000469228.2:p.Phe92Tyr
ENST00000221975.6:c.53T>A	ENSP00000221975.2:p.Phe18Tyr
ENST00000593863.5:c.275T>A	ENSP00000470004.1:p.Phe92Tyr
ENST00000598261.1:c.288T>A	ENSP00000469798.1:p.Leu96=
ENST00000598399.1:c.1113T>A	ENSP00000472660.1:n.1113T>A
ENST00000598742.5:c.275T>A	ENSP00000470972.1:p.Phe92Tyr
NM_001022.3:c.275T>A	NP_001013.1:p.Phe92Tyr
NM_001321483.1:c.275T>A	NP_001308412.1:p.Phe92Tyr
NM_001321484.1:c.275T>A	NP_001308413.1:p.Phe92Tyr
NM_001321485.1:c.288T>A	NP_001308414.1:p.Leu96=
XM_017027113.2:c.275T>A	XP_016882602.1:p.Phe92Tyr
NM_001022.4:c.275T>A MANE Select	NP_001013.1:p.Phe92Tyr
NM_001321483.2:c.275T>A	NP_001308412.1:p.Phe92Tyr
NM_001321484.2:c.275T>A	NP_001308413.1:p.Phe92Tyr
NM_001321485.2:c.288T>A	NP_001308414.1:p.Leu96=