Canonical Allele Identifier: CA952646
Community Standard Title: NM_000969.5(RPL5):c.846A>G (p.Gln282=)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92841817A>G , CM000663.2:g.92841817A>G GRCh38
NC_000001.10:g.93307374A>G , CM000663.1:g.93307374A>G GRCh37
NC_000001.9:g.93079962A>G NCBI36
NG_011779.1:g.14781A>G
NG_033051.1:g.124706T>C
NG_011779.2:g.14832A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000969.5:c.846A>G (RPL5) MANE Select NP_000960.2:p.Gln282=
ENST00000370321.8:c.846A>G (RPL5) MANE Select ENSP00000359345.2:p.Gln282=
NM_000969.3:c.846A>G (RPL5) NP_000960.2:p.Gln282=
NM_001252273.1:c.474+5366T>C (DIPK1A) NP_001239202.1:n.474+5366T>C
NM_001252273.2:c.474+5366T>C (DIPK1A) NP_001239202.1:n.474+5366T>C
NR_146333.1:n.905A>G (RPL5)
ENST00000370321.7:c.846A>G (RPL5) ENSP00000359345.2:p.Gln282=
ENST00000497519.1:n.1165A>G (RPL5)
ENST00000615519.4:c.474+5366T>C (DIPK1A) ENSP00000483279.1:n.474+5366T>C
ENST00000644549.1:n.167A>G (RPL5)
ENST00000645119.1:c.465A>G (RPL5) ENSP00000493811.1:p.Gln155=
ENST00000645300.1:c.696A>G (RPL5) ENSP00000495589.1:p.Gln232=