Canonical Allele Identifier: CA740408736

Linked Data

dbSNP Id: rs1357363836
gnomAD v3: 1-92837900-G-T
gnomAD v4: 1-92837900-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837900G>T , CM000663.2:g.92837900G>T GRCh38
NC_000001.10:g.93303457G>T , CM000663.1:g.93303457G>T GRCh37
NC_000001.9:g.93076045G>T NCBI36
NG_011779.1:g.10864G>T
NG_033051.1:g.128623C>A
NG_011779.2:g.10915G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.705+267G>T (RPL5) MANE Select ENSP00000359345.2:n.705+267G>T
ENST00000645119.1:c.325-2651G>T (RPL5) ENSP00000493811.1:n.325-2651G>T
ENST00000645300.1:c.555+267G>T (RPL5) ENSP00000495589.1:n.555+267G>T
ENST00000370321.7:c.705+267G>T (RPL5) ENSP00000359345.2:n.705+267G>T
ENST00000497519.1:n.1024+267G>T (RPL5)
ENST00000615519.4:c.475-4866C>A (DIPK1A) ENSP00000483279.1:n.475-4866C>A
NM_000969.3:c.705+267G>T (RPL5) NP_000960.2:n.705+267G>T
NM_001252273.1:c.475-4866C>A (DIPK1A) NP_001239202.1:n.475-4866C>A
NM_000969.5:c.705+267G>T (RPL5) MANE Select NP_000960.2:n.705+267G>T
NR_146333.1:n.764+267G>T (RPL5)
NM_001252273.2:c.475-4866C>A (DIPK1A) NP_001239202.1:n.475-4866C>A