Canonical Allele Identifier: CA1180933976

Linked Data

dbSNP Id: rs1687158642
gnomAD v3: 1-92837054-G-C
gnomAD v4: 1-92837054-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837054G>C , CM000663.2:g.92837054G>C GRCh38
NC_000001.10:g.93302611G>C , CM000663.1:g.93302611G>C GRCh37
NC_000001.9:g.93075199G>C NCBI36
NG_011779.1:g.10018G>C
NG_033051.1:g.129469C>G
NG_011779.2:g.10069G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.528-402G>C (RPL5) MANE Select ENSP00000359345.2:n.528-402G>C
ENST00000645119.1:c.324+2141G>C (RPL5) ENSP00000493811.1:n.324+2141G>C
ENST00000645300.1:c.378-402G>C (RPL5) ENSP00000495589.1:n.378-402G>C
ENST00000645908.1:n.262-402G>C (RPL5)
ENST00000315741.5:c.378-402G>C (RPL5) ENSP00000359338.2:n.378-402G>C
ENST00000370321.7:c.528-402G>C (RPL5) ENSP00000359345.2:n.528-402G>C
ENST00000497519.1:n.445G>C (RPL5)
ENST00000615519.4:c.475-4020C>G (DIPK1A) ENSP00000483279.1:n.475-4020C>G
NM_000969.3:c.528-402G>C (RPL5) NP_000960.2:n.528-402G>C
NM_001252273.1:c.475-4020C>G (DIPK1A) NP_001239202.1:n.475-4020C>G
NM_000969.5:c.528-402G>C (RPL5) MANE Select NP_000960.2:n.528-402G>C
NR_146333.1:n.587-402G>C (RPL5)
NM_001252273.2:c.475-4020C>G (DIPK1A) NP_001239202.1:n.475-4020C>G