Canonical Allele Identifier: CA952538

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837619G>A , CM000663.2:g.92837619G>A GRCh38
NC_000001.10:g.93303176G>A , CM000663.1:g.93303176G>A GRCh37
NC_000001.9:g.93075764G>A NCBI36
NG_011779.1:g.10583G>A
NG_033051.1:g.128904C>T
NG_011779.2:g.10634G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.691G>A (RPL5) MANE Select ENSP00000359345.2:p.Val231Ile
ENST00000645119.1:c.324+2706G>A (RPL5) ENSP00000493811.1:n.324+2706G>A
ENST00000645300.1:c.541G>A (RPL5) ENSP00000495589.1:p.Val181Ile
ENST00000645908.1:n.425G>A (RPL5)
ENST00000370321.7:c.691G>A (RPL5) ENSP00000359345.2:p.Val231Ile
ENST00000497519.1:n.1010G>A (RPL5)
ENST00000615519.4:c.475-4585C>T (DIPK1A) ENSP00000483279.1:n.475-4585C>T
NM_000969.3:c.691G>A (RPL5) NP_000960.2:p.Val231Ile
NM_001252273.1:c.475-4585C>T (DIPK1A) NP_001239202.1:n.475-4585C>T
NM_000969.5:c.691G>A (RPL5) MANE Select NP_000960.2:p.Val231Ile
NR_146333.1:n.750G>A (RPL5)
NM_001252273.2:c.475-4585C>T (DIPK1A) NP_001239202.1:n.475-4585C>T