Canonical Allele Identifier: CA9465365

Gene: RPS19

Linked Data

• ClinVar Variation Id: 2749277
• ClinVar RCV Id: RCV003506958
• dbSNP Id: rs782263708
• ExAC: 19:42373231 C / T
• gnomAD v2: 19-42373231-C-T
• gnomAD v4: 19-41869161-C-T
• MyVariant Identifiers: chr19:g.42373231C>T (hg19) ; chr19:g.41869161C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869161C>T , CM000681.2:g.41869161C>T	GRCh38
NC_000019.9:g.42373231C>T , CM000681.1:g.42373231C>T	GRCh37
NC_000019.8:g.47065071C>T	NCBI36
NG_007080.2:g.14244C>T
NG_007080.3:g.14244C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.303C>T MANE Select	ENSP00000470972.1:p.Arg101=
ENST00000600467.6:c.303C>T	ENSP00000469228.2:p.Arg101=
ENST00000221975.6:c.81C>T	ENSP00000221975.2:p.Arg27=
ENST00000593863.5:c.303C>T	ENSP00000470004.1:p.Arg101=
ENST00000598399.1:c.1141C>T	ENSP00000472660.1:n.1141C>T
ENST00000598742.5:c.303C>T	ENSP00000470972.1:p.Arg101=
NM_001022.3:c.303C>T	NP_001013.1:p.Arg101=
NM_001321483.1:c.303C>T	NP_001308412.1:p.Arg101=
NM_001321484.1:c.303C>T	NP_001308413.1:p.Arg101=
NM_001321485.1:c.316C>T	NP_001308414.1:p.Pro106Ser
XM_017027113.2:c.303C>T	XP_016882602.1:p.Arg101=
NM_001022.4:c.303C>T MANE Select	NP_001013.1:p.Arg101=
NM_001321483.2:c.303C>T	NP_001308412.1:p.Arg101=
NM_001321484.2:c.303C>T	NP_001308413.1:p.Arg101=
NM_001321485.2:c.316C>T	NP_001308414.1:p.Pro106Ser