Canonical Allele Identifier: CA406030020

Gene: RPS19

Linked Data

• gnomAD v4: 19-41869066-G-T
• MyVariant Identifiers: chr19:g.42373136G>T (hg19) ; chr19:g.41869066G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869066G>T , CM000681.2:g.41869066G>T	GRCh38
NC_000019.9:g.42373136G>T , CM000681.1:g.42373136G>T	GRCh37
NC_000019.8:g.47064976G>T	NCBI36
NG_007080.2:g.14149G>T
NG_007080.3:g.14149G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000598261.2:c.221G>T	ENSP00000469798.1:p.Arg74Leu
ENST00000598742.6:c.208G>T MANE Select	ENSP00000470972.1:p.Ala70Ser
ENST00000600467.6:c.208G>T	ENSP00000469228.2:p.Ala70Ser
ENST00000221975.6:c.-15G>T	ENSP00000221975.2:n.-15G>T
ENST00000593863.5:c.208G>T	ENSP00000470004.1:p.Ala70Ser
ENST00000598261.1:c.221G>T	ENSP00000469798.1:p.Arg74Leu
ENST00000598399.1:c.1046G>T	ENSP00000472660.1:n.1046G>T
ENST00000598742.5:c.208G>T	ENSP00000470972.1:p.Ala70Ser
ENST00000600467.5:c.208G>T	ENSP00000469228.1:p.Ala70Ser
ENST00000601492.5:c.289G>T	ENSP00000471621.1:p.Ala97Ser
NM_001022.3:c.208G>T	NP_001013.1:p.Ala70Ser
NM_001321483.1:c.208G>T	NP_001308412.1:p.Ala70Ser
NM_001321484.1:c.208G>T	NP_001308413.1:p.Ala70Ser
NM_001321485.1:c.221G>T	NP_001308414.1:p.Arg74Leu
XM_017027113.2:c.208G>T	XP_016882602.1:p.Ala70Ser
NM_001022.4:c.208G>T MANE Select	NP_001013.1:p.Ala70Ser
NM_001321483.2:c.208G>T	NP_001308412.1:p.Ala70Ser
NM_001321484.2:c.208G>T	NP_001308413.1:p.Ala70Ser
NM_001321485.2:c.221G>T	NP_001308414.1:p.Arg74Leu