Canonical Allele Identifier: CA633185011

Gene: RPS19

Linked Data

• dbSNP Id: rs1412625313
• gnomAD v2: 19-42373363-T-C
• gnomAD v3: 19-41869293-T-C
• gnomAD v4: 19-41869293-T-C
• MyVariant Identifiers: chr19:g.42373363T>C (hg19) ; chr19:g.41869293T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869293T>C , CM000681.2:g.41869293T>C	GRCh38
NC_000019.9:g.42373363T>C , CM000681.1:g.42373363T>C	GRCh37
NC_000019.8:g.47065203T>C	NCBI36
NG_007080.2:g.14376T>C
NG_007080.3:g.14376T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000598742.6:c.356+79T>C MANE Select	ENSP00000470972.1:n.356+79T>C
ENST00000600467.6:c.356+79T>C	ENSP00000469228.2:n.356+79T>C
ENST00000221975.6:c.134+79T>C	ENSP00000221975.2:n.134+79T>C
ENST00000593863.5:c.356+79T>C	ENSP00000470004.1:n.356+79T>C
ENST00000598742.5:c.356+79T>C	ENSP00000470972.1:n.356+79T>C
NM_001022.3:c.356+79T>C	NP_001013.1:n.356+79T>C
NM_001321483.1:c.356+79T>C	NP_001308412.1:n.356+79T>C
NM_001321484.1:c.356+79T>C	NP_001308413.1:n.356+79T>C
NM_001321485.1:c.369+79T>C	NP_001308414.1:n.369+79T>C
XM_017027113.2:c.356+79T>C	XP_016882602.1:n.356+79T>C
NM_001022.4:c.356+79T>C MANE Select	NP_001013.1:n.356+79T>C
NM_001321483.2:c.356+79T>C	NP_001308412.1:n.356+79T>C
NM_001321484.2:c.356+79T>C	NP_001308413.1:n.356+79T>C
NM_001321485.2:c.369+79T>C	NP_001308414.1:n.369+79T>C