Canonical Allele Identifier: CA406030654

Gene: RPS19

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.41869704G>T , CM000681.2:g.41869704G>T	GRCh38
NC_000019.9:g.42373774G>T , CM000681.1:g.42373774G>T	GRCh37
NC_000019.8:g.47065614G>T	NCBI36
NG_007080.2:g.14787G>T
NG_007080.3:g.14787G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001022.4:c.362G>T MANE Select	NP_001013.1:p.Arg121Leu
ENST00000598742.6:c.362G>T MANE Select	ENSP00000470972.1:p.Arg121Leu
NM_001022.3:c.362G>T	NP_001013.1:p.Arg121Leu
NM_001321483.1:c.362G>T	NP_001308412.1:p.Arg121Leu
NM_001321483.2:c.362G>T	NP_001308412.1:p.Arg121Leu
NM_001321484.1:c.362G>T	NP_001308413.1:p.Arg121Leu
NM_001321484.2:c.362G>T	NP_001308413.1:p.Arg121Leu
NM_001321485.1:c.375G>T	NP_001308414.1:p.Pro125=
NM_001321485.2:c.375G>T	NP_001308414.1:p.Pro125=
ENST00000221975.6:c.140G>T	ENSP00000221975.2:p.Arg47Leu
ENST00000593863.5:c.362G>T	ENSP00000470004.1:p.Arg121Leu
ENST00000598742.5:c.362G>T	ENSP00000470972.1:p.Arg121Leu
ENST00000600467.6:c.362G>T	ENSP00000469228.2:p.Arg121Leu
XM_017027113.2:c.362G>T	XP_016882602.1:p.Arg121Leu