Canonical Allele Identifier: CA9465352

Gene: RPS19

Linked Data

• dbSNP Id: rs782350250
• ExAC: 19:42373164 A / G
• gnomAD v2: 19-42373164-A-G
• gnomAD v4: 19-41869094-A-G
• MyVariant Identifiers: chr19:g.42373164A>G (hg19) ; chr19:g.41869094A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869094A>G , CM000681.2:g.41869094A>G	GRCh38
NC_000019.9:g.42373164A>G , CM000681.1:g.42373164A>G	GRCh37
NC_000019.8:g.47065004A>G	NCBI36
NG_007080.2:g.14177A>G
NG_007080.3:g.14177A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.249A>G	ENSP00000469798.1:p.Leu83=
ENST00000598742.6:c.236A>G MANE Select	ENSP00000470972.1:p.Tyr79Cys
ENST00000600467.6:c.236A>G	ENSP00000469228.2:p.Tyr79Cys
ENST00000221975.6:c.14A>G	ENSP00000221975.2:p.Tyr5Cys
ENST00000593863.5:c.236A>G	ENSP00000470004.1:p.Tyr79Cys
ENST00000598261.1:c.249A>G	ENSP00000469798.1:p.Leu83=
ENST00000598399.1:c.1074A>G	ENSP00000472660.1:n.1074A>G
ENST00000598742.5:c.236A>G	ENSP00000470972.1:p.Tyr79Cys
NM_001022.3:c.236A>G	NP_001013.1:p.Tyr79Cys
NM_001321483.1:c.236A>G	NP_001308412.1:p.Tyr79Cys
NM_001321484.1:c.236A>G	NP_001308413.1:p.Tyr79Cys
NM_001321485.1:c.249A>G	NP_001308414.1:p.Leu83=
XM_017027113.2:c.236A>G	XP_016882602.1:p.Tyr79Cys
NM_001022.4:c.236A>G MANE Select	NP_001013.1:p.Tyr79Cys
NM_001321483.2:c.236A>G	NP_001308412.1:p.Tyr79Cys
NM_001321484.2:c.236A>G	NP_001308413.1:p.Tyr79Cys
NM_001321485.2:c.249A>G	NP_001308414.1:p.Leu83=