Canonical Allele Identifier: CA253786

Linked Data

ClinVar Variation Id: 6179
dbSNP Id: rs121434405

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92833452C>T , CM000663.2:g.92833452C>T GRCh38
NC_000001.10:g.93299009C>T , CM000663.1:g.93299009C>T GRCh37
NC_000001.9:g.93071597C>T NCBI36
NG_011779.1:g.6416C>T
NG_033051.1:g.133071G>A
NG_011779.2:g.6467C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.67C>T (RPL5) MANE Select ENSP00000359345.2:p.Arg23Ter
ENST00000645119.1:c.67C>T (RPL5) ENSP00000493811.1:p.Arg23Ter
ENST00000645300.1:c.-77-93C>T (RPL5) ENSP00000495589.1:n.-77-93C>T
ENST00000646852.1:n.96C>T (RPL5)
ENST00000315741.5:c.-84C>T (RPL5) ENSP00000359338.2:n.-84C>T
ENST00000370321.7:c.67C>T (RPL5) ENSP00000359345.2:p.Arg23Ter
ENST00000461952.1:n.691C>T (RPL5)
ENST00000470843.5:c.67C>T (RPL5) ENSP00000473675.1:p.Arg23Ter
ENST00000615519.4:c.475-418G>A (DIPK1A) ENSP00000483279.1:n.475-418G>A
NM_000969.3:c.67C>T (RPL5) NP_000960.2:p.Arg23Ter
NM_001252273.1:c.475-418G>A (DIPK1A) NP_001239202.1:n.475-418G>A
NM_000969.5:c.67C>T (RPL5) MANE Select NP_000960.2:p.Arg23Ter
NR_146333.1:n.196C>T (RPL5)
NM_001252273.2:c.475-418G>A (DIPK1A) NP_001239202.1:n.475-418G>A