Canonical Allele Identifier: CA406046547
Community Standard Title: NM_001022.4(RPS19):c.79A>T (p.Lys27Ter)
Gene: RPS19 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.41861119A>T , CM000681.2:g.41861119A>T GRCh38
NC_000019.9:g.42365188A>T , CM000681.1:g.42365188A>T GRCh37
NC_000019.8:g.47057028A>T NCBI36
NG_007080.2:g.6201A>T
NG_007080.3:g.6202A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001022.4:c.79A>T MANE Select NP_001013.1:p.Lys27Ter
ENST00000598742.6:c.79A>T MANE Select ENSP00000470972.1:p.Lys27Ter
NM_001022.3:c.79A>T NP_001013.1:p.Lys27Ter
NM_001321483.1:c.79A>T NP_001308412.1:p.Lys27Ter
NM_001321483.2:c.79A>T NP_001308412.1:p.Lys27Ter
NM_001321484.1:c.79A>T NP_001308413.1:p.Lys27Ter
NM_001321484.2:c.79A>T NP_001308413.1:p.Lys27Ter
NM_001321485.1:c.79A>T NP_001308414.1:p.Lys27Ter
NM_001321485.2:c.79A>T NP_001308414.1:p.Lys27Ter
ENST00000221975.6:c.-144A>T ENSP00000221975.2:n.-144A>T
ENST00000593863.5:c.79A>T ENSP00000470004.1:p.Lys27Ter
ENST00000598261.1:c.79A>T ENSP00000469798.1:p.Lys27Ter
ENST00000598261.2:c.79A>T ENSP00000469798.1:p.Lys27Ter
ENST00000598399.1:c.76A>T ENSP00000472660.1:p.Lys26Ter
ENST00000598466.5:n.114A>T
ENST00000598742.5:c.79A>T ENSP00000470972.1:p.Lys27Ter
ENST00000600467.5:c.79A>T ENSP00000469228.1:p.Lys27Ter
ENST00000600467.6:c.79A>T ENSP00000469228.2:p.Lys27Ter
ENST00000601492.5:c.79A>T ENSP00000471621.1:p.Lys27Ter
XM_017027113.2:c.79A>T XP_016882602.1:p.Lys27Ter