Canonical Allele Identifier: CA1148224405

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837592C= , CM000663.2:g.92837592C= GRCh38
NC_000001.10:g.93303149C= , CM000663.1:g.93303149C= GRCh37
NC_000001.9:g.93075737C= NCBI36
NG_011779.1:g.10556C=
NG_033051.1:g.128931G=
NG_011779.2:g.10607C=

Transcript Alleles

HGVS Amino-acid Change
NM_000969.5:c.664C= (RPL5) MANE Select NP_000960.2:p.Gln222=
ENST00000370321.8:c.664C= (RPL5) MANE Select ENSP00000359345.2:p.Gln222=
NM_000969.3:c.664C= (RPL5) NP_000960.2:p.Gln222=
NM_001252273.1:c.475-4558G= (DIPK1A) NP_001239202.1:n.475-4558G=
NM_001252273.2:c.475-4558G= (DIPK1A) NP_001239202.1:n.475-4558G=
NR_146333.1:n.723C= (RPL5)
ENST00000370321.7:c.664C= (RPL5) ENSP00000359345.2:p.Gln222=
ENST00000497519.1:n.983C= (RPL5)
ENST00000615519.4:c.475-4558G= (DIPK1A) ENSP00000483279.1:n.475-4558G=
ENST00000645119.1:c.324+2679C= (RPL5) ENSP00000493811.1:n.324+2679C=
ENST00000645300.1:c.514C= (RPL5) ENSP00000495589.1:p.Gln172=
ENST00000645908.1:n.398C= (RPL5)