Canonical Allele Identifier: CA2646597617

Linked Data

dbSNP Id: rs2100689444
gnomAD v4: 1-92837899-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837899A>G , CM000663.2:g.92837899A>G GRCh38
NC_000001.10:g.93303456A>G , CM000663.1:g.93303456A>G GRCh37
NC_000001.9:g.93076044A>G NCBI36
NG_011779.1:g.10863A>G
NG_033051.1:g.128624T>C
NG_011779.2:g.10914A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.705+266A>G (RPL5) MANE Select ENSP00000359345.2:n.705+266A>G
ENST00000645119.1:c.325-2652A>G (RPL5) ENSP00000493811.1:n.325-2652A>G
ENST00000645300.1:c.555+266A>G (RPL5) ENSP00000495589.1:n.555+266A>G
ENST00000370321.7:c.705+266A>G (RPL5) ENSP00000359345.2:n.705+266A>G
ENST00000497519.1:n.1024+266A>G (RPL5)
ENST00000615519.4:c.475-4865T>C (DIPK1A) ENSP00000483279.1:n.475-4865T>C
NM_000969.3:c.705+266A>G (RPL5) NP_000960.2:n.705+266A>G
NM_001252273.1:c.475-4865T>C (DIPK1A) NP_001239202.1:n.475-4865T>C
NM_000969.5:c.705+266A>G (RPL5) MANE Select NP_000960.2:n.705+266A>G
NR_146333.1:n.764+266A>G (RPL5)
NM_001252273.2:c.475-4865T>C (DIPK1A) NP_001239202.1:n.475-4865T>C