Canonical Allele Identifier: CA16616275
Gene: RPS19 HGNC NCBI

Linked Data

ClinVar Variation Id: 412282
ClinVar RCV Id: RCV000462953
dbSNP Id: rs1060503688
MyVariant Identifiers: chr19:g.42373794C>T (hg19) chr19:g.41869724C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41869724C>T , CM000681.2:g.41869724C>T GRCh38
NC_000019.9:g.42373794C>T , CM000681.1:g.42373794C>T GRCh37
NC_000019.8:g.47065634C>T NCBI36
NG_007080.2:g.14807C>T
NG_007080.3:g.14807C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000598742.6:c.382C>T MANE Select ENSP00000470972.1:p.Gln128Ter
ENST00000600467.6:c.382C>T ENSP00000469228.2:p.Gln128Ter
ENST00000221975.6:c.160C>T ENSP00000221975.2:p.Gln54Ter
ENST00000593863.5:c.382C>T ENSP00000470004.1:p.Gln128Ter
ENST00000598742.5:c.382C>T ENSP00000470972.1:p.Gln128Ter
NM_001022.3:c.382C>T NP_001013.1:p.Gln128Ter
NM_001321483.1:c.382C>T NP_001308412.1:p.Gln128Ter
NM_001321484.1:c.382C>T NP_001308413.1:p.Gln128Ter
NM_001321485.1:c.395C>T NP_001308414.1:p.Thr132Ile
XM_017027113.2:c.382C>T XP_016882602.1:p.Gln128Ter
NM_001022.4:c.382C>T MANE Select NP_001013.1:p.Gln128Ter
NM_001321483.2:c.382C>T NP_001308412.1:p.Gln128Ter
NM_001321484.2:c.382C>T NP_001308413.1:p.Gln128Ter
NM_001321485.2:c.395C>T NP_001308414.1:p.Thr132Ile
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