Canonical Allele Identifier: CA341242118

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836267C>A , CM000663.2:g.92836267C>A GRCh38
NC_000001.10:g.93301824C>A , CM000663.1:g.93301824C>A GRCh37
NC_000001.9:g.93074412C>A NCBI36
NG_011779.1:g.9231C>A
NG_033051.1:g.130256G>T
NG_011779.2:g.9282C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.402C>A (RPL5) MANE Select ENSP00000359345.2:p.Ser134Arg
ENST00000645119.1:c.324+1354C>A (RPL5) ENSP00000493811.1:n.324+1354C>A
ENST00000645300.1:c.252C>A (RPL5) ENSP00000495589.1:p.Ser84Arg
ENST00000645908.1:n.136C>A (RPL5)
ENST00000315741.5:c.252C>A (RPL5) ENSP00000359338.2:p.Ser84Arg
ENST00000370321.7:c.402C>A (RPL5) ENSP00000359345.2:p.Ser134Arg
ENST00000461952.1:n.1112C>A (RPL5)
ENST00000470843.5:c.*364C>A (RPL5) ENSP00000473675.1:n.*364C>A
ENST00000615519.4:c.475-3233G>T (DIPK1A) ENSP00000483279.1:n.475-3233G>T
NM_000969.3:c.402C>A (RPL5) NP_000960.2:p.Ser134Arg
NM_001252273.1:c.475-3233G>T (DIPK1A) NP_001239202.1:n.475-3233G>T
NM_000969.5:c.402C>A (RPL5) MANE Select NP_000960.2:p.Ser134Arg
NR_146333.1:n.461C>A (RPL5)
NM_001252273.2:c.475-3233G>T (DIPK1A) NP_001239202.1:n.475-3233G>T