Canonical Allele Identifier: CA9465345

Gene: RPS19

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869050G>C , CM000681.2:g.41869050G>C	GRCh38
NC_000019.9:g.42373120G>C , CM000681.1:g.42373120G>C	GRCh37
NC_000019.8:g.47064960G>C	NCBI36
NG_007080.2:g.14133G>C
NG_007080.3:g.14133G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001022.4:c.192G>C MANE Select	NP_001013.1:p.Leu64=
ENST00000598742.6:c.192G>C MANE Select	ENSP00000470972.1:p.Leu64=
NM_001022.3:c.192G>C	NP_001013.1:p.Leu64=
NM_001321483.1:c.192G>C	NP_001308412.1:p.Leu64=
NM_001321483.2:c.192G>C	NP_001308412.1:p.Leu64=
NM_001321484.1:c.192G>C	NP_001308413.1:p.Leu64=
NM_001321484.2:c.192G>C	NP_001308413.1:p.Leu64=
NM_001321485.1:c.205G>C	NP_001308414.1:p.Val69Leu
NM_001321485.2:c.205G>C	NP_001308414.1:p.Val69Leu
ENST00000221975.6:c.-31G>C	ENSP00000221975.2:n.-31G>C
ENST00000593863.5:c.192G>C	ENSP00000470004.1:p.Leu64=
ENST00000598261.1:c.205G>C	ENSP00000469798.1:p.Val69Leu
ENST00000598261.2:c.205G>C	ENSP00000469798.1:p.Val69Leu
ENST00000598399.1:c.1030G>C	ENSP00000472660.1:n.1030G>C
ENST00000598742.5:c.192G>C	ENSP00000470972.1:p.Leu64=
ENST00000600467.5:c.192G>C	ENSP00000469228.1:p.Leu64=
ENST00000600467.6:c.192G>C	ENSP00000469228.2:p.Leu64=
ENST00000601492.5:c.273G>C	ENSP00000471621.1:p.Leu91=
XM_017027113.2:c.192G>C	XP_016882602.1:p.Leu64=