Canonical Allele Identifier: CA9465364
Community Standard Title: NM_001022.4(RPS19):c.301C>T (p.Arg101Cys)
Gene: RPS19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41869159C>T , CM000681.2:g.41869159C>T GRCh38
NC_000019.9:g.42373229C>T , CM000681.1:g.42373229C>T GRCh37
NC_000019.8:g.47065069C>T NCBI36
NG_007080.2:g.14242C>T
NG_007080.3:g.14242C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001022.4:c.301C>T MANE Select NP_001013.1:p.Arg101Cys
ENST00000598742.6:c.301C>T MANE Select ENSP00000470972.1:p.Arg101Cys
NM_001022.3:c.301C>T NP_001013.1:p.Arg101Cys
NM_001321483.1:c.301C>T NP_001308412.1:p.Arg101Cys
NM_001321483.2:c.301C>T NP_001308412.1:p.Arg101Cys
NM_001321484.1:c.301C>T NP_001308413.1:p.Arg101Cys
NM_001321484.2:c.301C>T NP_001308413.1:p.Arg101Cys
NM_001321485.1:c.314C>T NP_001308414.1:p.Pro105Leu
NM_001321485.2:c.314C>T NP_001308414.1:p.Pro105Leu
ENST00000221975.6:c.79C>T ENSP00000221975.2:p.Arg27Cys
ENST00000593863.5:c.301C>T ENSP00000470004.1:p.Arg101Cys
ENST00000598399.1:c.1139C>T ENSP00000472660.1:n.1139C>T
ENST00000598742.5:c.301C>T ENSP00000470972.1:p.Arg101Cys
ENST00000600467.6:c.301C>T ENSP00000469228.2:p.Arg101Cys
XM_017027113.2:c.301C>T XP_016882602.1:p.Arg101Cys