Canonical Allele Identifier: CA406030558

Gene: RPS19

Linked Data

• gnomAD v4: 19-41869189-A-C
• MyVariant Identifiers: chr19:g.42373259A>C (hg19) ; chr19:g.41869189A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869189A>C , CM000681.2:g.41869189A>C	GRCh38
NC_000019.9:g.42373259A>C , CM000681.1:g.42373259A>C	GRCh37
NC_000019.8:g.47065099A>C	NCBI36
NG_007080.2:g.14272A>C
NG_007080.3:g.14272A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598742.6:c.331A>C MANE Select	ENSP00000470972.1:p.Lys111Gln
ENST00000600467.6:c.331A>C	ENSP00000469228.2:p.Lys111Gln
ENST00000221975.6:c.109A>C	ENSP00000221975.2:p.Lys37Gln
ENST00000593863.5:c.331A>C	ENSP00000470004.1:p.Lys111Gln
ENST00000598399.1:c.1169A>C	ENSP00000472660.1:n.1169A>C
ENST00000598742.5:c.331A>C	ENSP00000470972.1:p.Lys111Gln
NM_001022.3:c.331A>C	NP_001013.1:p.Lys111Gln
NM_001321483.1:c.331A>C	NP_001308412.1:p.Lys111Gln
NM_001321484.1:c.331A>C	NP_001308413.1:p.Lys111Gln
NM_001321485.1:c.344A>C	NP_001308414.1:p.Glu115Ala
XM_017027113.2:c.331A>C	XP_016882602.1:p.Lys111Gln
NM_001022.4:c.331A>C MANE Select	NP_001013.1:p.Lys111Gln
NM_001321483.2:c.331A>C	NP_001308412.1:p.Lys111Gln
NM_001321484.2:c.331A>C	NP_001308413.1:p.Lys111Gln
NM_001321485.2:c.344A>C	NP_001308414.1:p.Glu115Ala