Canonical Allele Identifier: CA16043115

Gene: RPS19

Linked Data

• ClinVar Variation Id: 372495
• ClinVar RCV Id: RCV000414046 ; RCV002323577
• dbSNP Id: rs144337183
• MyVariant Identifiers: chr19:g.42373818G>T (hg19) ; chr19:g.41869748G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869748G>T , CM000681.2:g.41869748G>T	GRCh38
NC_000019.9:g.42373818G>T , CM000681.1:g.42373818G>T	GRCh37
NC_000019.8:g.47065658G>T	NCBI36
NG_007080.2:g.14831G>T
NG_007080.3:g.14831G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.406G>T MANE Select	ENSP00000470972.1:p.Gly136Ter
ENST00000600467.6:c.406G>T	ENSP00000469228.2:p.Gly136Ter
ENST00000221975.6:c.184G>T	ENSP00000221975.2:p.Gly62Ter
ENST00000593863.5:c.406G>T	ENSP00000470004.1:p.Gly136Ter
ENST00000598742.5:c.406G>T	ENSP00000470972.1:p.Gly136Ter
NM_001022.3:c.406G>T	NP_001013.1:p.Gly136Ter
NM_001321483.1:c.406G>T	NP_001308412.1:p.Gly136Ter
NM_001321484.1:c.406G>T	NP_001308413.1:p.Gly136Ter
NM_001321485.1:c.419G>T	NP_001308414.1:p.Arg140Leu
XM_017027113.2:c.406G>T	XP_016882602.1:p.Gly136Ter
NM_001022.4:c.406G>T MANE Select	NP_001013.1:p.Gly136Ter
NM_001321483.2:c.406G>T	NP_001308412.1:p.Gly136Ter
NM_001321484.2:c.406G>T	NP_001308413.1:p.Gly136Ter
NM_001321485.2:c.419G>T	NP_001308414.1:p.Arg140Leu