Canonical Allele Identifier: CA406030155

Gene: RPS19

Linked Data

• dbSNP Id: rs1555841319
• gnomAD v2: 19-42373158-A-G
• gnomAD v3: 19-41869088-A-G
• gnomAD v4: 19-41869088-A-G
• MyVariant Identifiers: chr19:g.42373158A>G (hg19) ; chr19:g.41869088A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869088A>G , CM000681.2:g.41869088A>G	GRCh38
NC_000019.9:g.42373158A>G , CM000681.1:g.42373158A>G	GRCh37
NC_000019.8:g.47064998A>G	NCBI36
NG_007080.2:g.14171A>G
NG_007080.3:g.14171A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.243A>G	ENSP00000469798.1:p.Gln81=
ENST00000598742.6:c.230A>G MANE Select	ENSP00000470972.1:p.Lys77Arg
ENST00000600467.6:c.230A>G	ENSP00000469228.2:p.Lys77Arg
ENST00000221975.6:c.8A>G	ENSP00000221975.2:p.Lys3Arg
ENST00000593863.5:c.230A>G	ENSP00000470004.1:p.Lys77Arg
ENST00000598261.1:c.243A>G	ENSP00000469798.1:p.Gln81=
ENST00000598399.1:c.1068A>G	ENSP00000472660.1:n.1068A>G
ENST00000598742.5:c.230A>G	ENSP00000470972.1:p.Lys77Arg
NM_001022.3:c.230A>G	NP_001013.1:p.Lys77Arg
NM_001321483.1:c.230A>G	NP_001308412.1:p.Lys77Arg
NM_001321484.1:c.230A>G	NP_001308413.1:p.Lys77Arg
NM_001321485.1:c.243A>G	NP_001308414.1:p.Gln81=
XM_017027113.2:c.230A>G	XP_016882602.1:p.Lys77Arg
NM_001022.4:c.230A>G MANE Select	NP_001013.1:p.Lys77Arg
NM_001321483.2:c.230A>G	NP_001308412.1:p.Lys77Arg
NM_001321484.2:c.230A>G	NP_001308413.1:p.Lys77Arg
NM_001321485.2:c.243A>G	NP_001308414.1:p.Gln81=