Canonical Allele Identifier: CA406030619

Gene: RPS19

Linked Data

• ClinVar Variation Id: 3236681
• ClinVar RCV Id: RCV004556141
• MyVariant Identifiers: chr19:g.42373281A>G (hg19) ; chr19:g.41869211A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869211A>G , CM000681.2:g.41869211A>G	GRCh38
NC_000019.9:g.42373281A>G , CM000681.1:g.42373281A>G	GRCh37
NC_000019.8:g.47065121A>G	NCBI36
NG_007080.2:g.14294A>G
NG_007080.3:g.14294A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.353A>G MANE Select	ENSP00000470972.1:p.Asp118Gly
ENST00000600467.6:c.353A>G	ENSP00000469228.2:p.Asp118Gly
ENST00000221975.6:c.131A>G	ENSP00000221975.2:p.Asp44Gly
ENST00000593863.5:c.353A>G	ENSP00000470004.1:p.Asp118Gly
ENST00000598742.5:c.353A>G	ENSP00000470972.1:p.Asp118Gly
NM_001022.3:c.353A>G	NP_001013.1:p.Asp118Gly
NM_001321483.1:c.353A>G	NP_001308412.1:p.Asp118Gly
NM_001321484.1:c.353A>G	NP_001308413.1:p.Asp118Gly
NM_001321485.1:c.366A>G	NP_001308414.1:p.Arg122=
XM_017027113.2:c.353A>G	XP_016882602.1:p.Asp118Gly
NM_001022.4:c.353A>G MANE Select	NP_001013.1:p.Asp118Gly
NM_001321483.2:c.353A>G	NP_001308412.1:p.Asp118Gly
NM_001321484.2:c.353A>G	NP_001308413.1:p.Asp118Gly
NM_001321485.2:c.366A>G	NP_001308414.1:p.Arg122=