Canonical Allele Identifier: CA130761

Gene: RPS19

Linked Data

• ClinVar Variation Id: 6313
• ClinVar RCV Id: RCV000033182 ; RCV000272977 ; RCV002433445
• dbSNP Id: rs61762293
• gnomAD v2: 19-42373208-C-T
• MyVariant Identifiers: chr19:g.42373208C>T (hg19) ; chr19:g.41869138C>T (hg38)
• PubMed: PMID:9988267

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869138C>T , CM000681.2:g.41869138C>T	GRCh38
NC_000019.9:g.42373208C>T , CM000681.1:g.42373208C>T	GRCh37
NC_000019.8:g.47065048C>T	NCBI36
NG_007080.2:g.14221C>T
NG_007080.3:g.14221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.293C>T	ENSP00000469798.1:p.Pro98Leu
ENST00000598742.6:c.280C>T MANE Select	ENSP00000470972.1:p.Arg94Ter
ENST00000600467.6:c.280C>T	ENSP00000469228.2:p.Arg94Ter
ENST00000221975.6:c.58C>T	ENSP00000221975.2:p.Arg20Ter
ENST00000593863.5:c.280C>T	ENSP00000470004.1:p.Arg94Ter
ENST00000598261.1:c.293C>T	ENSP00000469798.1:p.Pro98Leu
ENST00000598399.1:c.1118C>T	ENSP00000472660.1:n.1118C>T
ENST00000598742.5:c.280C>T	ENSP00000470972.1:p.Arg94Ter
NM_001022.3:c.280C>T	NP_001013.1:p.Arg94Ter
NM_001321483.1:c.280C>T	NP_001308412.1:p.Arg94Ter
NM_001321484.1:c.280C>T	NP_001308413.1:p.Arg94Ter
NM_001321485.1:c.293C>T	NP_001308414.1:p.Pro98Leu
XM_017027113.2:c.280C>T	XP_016882602.1:p.Arg94Ter
NM_001022.4:c.280C>T MANE Select	NP_001013.1:p.Arg94Ter
NM_001321483.2:c.280C>T	NP_001308412.1:p.Arg94Ter
NM_001321484.2:c.280C>T	NP_001308413.1:p.Arg94Ter
NM_001321485.2:c.293C>T	NP_001308414.1:p.Pro98Leu