Canonical Allele Identifier: CA9465371

Gene: RPS19

Linked Data

• dbSNP Id: rs782118495
• ExAC: 19:42373282 T / A
• gnomAD v2: 19-42373282-T-A
• gnomAD v4: 19-41869212-T-A
• MyVariant Identifiers: chr19:g.42373282T>A (hg19) ; chr19:g.41869212T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869212T>A , CM000681.2:g.41869212T>A	GRCh38
NC_000019.9:g.42373282T>A , CM000681.1:g.42373282T>A	GRCh37
NC_000019.8:g.47065122T>A	NCBI36
NG_007080.2:g.14295T>A
NG_007080.3:g.14295T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000598742.6:c.354T>A MANE Select	ENSP00000470972.1:p.Asp118Glu
ENST00000600467.6:c.354T>A	ENSP00000469228.2:p.Asp118Glu
ENST00000221975.6:c.132T>A	ENSP00000221975.2:p.Asp44Glu
ENST00000593863.5:c.354T>A	ENSP00000470004.1:p.Asp118Glu
ENST00000598742.5:c.354T>A	ENSP00000470972.1:p.Asp118Glu
NM_001022.3:c.354T>A	NP_001013.1:p.Asp118Glu
NM_001321483.1:c.354T>A	NP_001308412.1:p.Asp118Glu
NM_001321484.1:c.354T>A	NP_001308413.1:p.Asp118Glu
NM_001321485.1:c.367T>A	NP_001308414.1:p.Trp123Arg
XM_017027113.2:c.354T>A	XP_016882602.1:p.Asp118Glu
NM_001022.4:c.354T>A MANE Select	NP_001013.1:p.Asp118Glu
NM_001321483.2:c.354T>A	NP_001308412.1:p.Asp118Glu
NM_001321484.2:c.354T>A	NP_001308413.1:p.Asp118Glu
NM_001321485.2:c.367T>A	NP_001308414.1:p.Trp123Arg