Canonical Allele Identifier: CA507576468

Gene: RPS19

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869735G>C , CM000681.2:g.41869735G>C	GRCh38
NC_000019.9:g.42373805G>C , CM000681.1:g.42373805G>C	GRCh37
NC_000019.8:g.47065645G>C	NCBI36
NG_007080.2:g.14818G>C
NG_007080.3:g.14818G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001022.4:c.393G>C MANE Select	NP_001013.1:p.Leu131=
ENST00000598742.6:c.393G>C MANE Select	ENSP00000470972.1:p.Leu131=
NM_001022.3:c.393G>C	NP_001013.1:p.Leu131=
NM_001321483.1:c.393G>C	NP_001308412.1:p.Leu131=
NM_001321483.2:c.393G>C	NP_001308412.1:p.Leu131=
NM_001321484.1:c.393G>C	NP_001308413.1:p.Leu131=
NM_001321484.2:c.393G>C	NP_001308413.1:p.Leu131=
NM_001321485.1:c.406G>C	NP_001308414.1:p.Gly136Arg
NM_001321485.2:c.406G>C	NP_001308414.1:p.Gly136Arg
ENST00000221975.6:c.171G>C	ENSP00000221975.2:p.Leu57=
ENST00000593863.5:c.393G>C	ENSP00000470004.1:p.Leu131=
ENST00000598742.5:c.393G>C	ENSP00000470972.1:p.Leu131=
ENST00000600467.6:c.393G>C	ENSP00000469228.2:p.Leu131=
XM_017027113.2:c.393G>C	XP_016882602.1:p.Leu131=