Canonical Allele Identifier: CA308588552

Gene: RPS19

Linked Data

• dbSNP Id: rs903211282
• gnomAD v2: 19-42364789-C-T
• gnomAD v3: 19-41860719-C-T
• gnomAD v4: 19-41860719-C-T
• MyVariant Identifiers: chr19:g.42364789C>T (hg19) ; chr19:g.41860719C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41860719C>T , CM000681.2:g.41860719C>T	GRCh38
NC_000019.9:g.42364789C>T , CM000681.1:g.42364789C>T	GRCh37
NC_000019.8:g.47056629C>T	NCBI36
NG_007080.2:g.5802C>T
NG_007080.3:g.5802C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000598261.2:c.1-56C>T	ENSP00000469798.1:n.1-56C>T
ENST00000598742.6:c.1-56C>T MANE Select	ENSP00000470972.1:n.1-56C>T
ENST00000600467.6:c.1-56C>T	ENSP00000469228.2:n.1-56C>T
ENST00000221975.6:c.-212-66C>T	ENSP00000221975.2:n.-212-66C>T
ENST00000593863.5:c.1-56C>T	ENSP00000470004.1:n.1-56C>T
ENST00000598466.5:n.36-56C>T
ENST00000598742.5:c.1-56C>T	ENSP00000470972.1:n.1-56C>T
ENST00000600467.5:c.1-56C>T	ENSP00000469228.1:n.1-56C>T
ENST00000601492.5:c.1-56C>T	ENSP00000471621.1:n.1-56C>T
NM_001022.3:c.1-56C>T	NP_001013.1:n.1-56C>T
NM_001321483.1:c.1-56C>T	NP_001308412.1:n.1-56C>T
NM_001321484.1:c.1-56C>T	NP_001308413.1:n.1-56C>T
NM_001321485.1:c.1-56C>T	NP_001308414.1:n.1-56C>T
XM_017027113.2:c.1-56C>T	XP_016882602.1:n.1-56C>T
NM_001022.4:c.1-56C>T MANE Select	NP_001013.1:n.1-56C>T
NM_001321483.2:c.1-56C>T	NP_001308412.1:n.1-56C>T
NM_001321484.2:c.1-56C>T	NP_001308413.1:n.1-56C>T
NM_001321485.2:c.1-56C>T	NP_001308414.1:n.1-56C>T