Canonical Allele Identifier: CA524366179

Linked Data

dbSNP Id: rs1463133893
gnomAD v2: 1-93302741-A-C
gnomAD v3: 1-92837184-A-C
gnomAD v4: 1-92837184-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837184A>C , CM000663.2:g.92837184A>C GRCh38
NC_000001.10:g.93302741A>C , CM000663.1:g.93302741A>C GRCh37
NC_000001.9:g.93075329A>C NCBI36
NG_011779.1:g.10148A>C
NG_033051.1:g.129339T>G
NG_011779.2:g.10199A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.528-272A>C (RPL5) MANE Select ENSP00000359345.2:n.528-272A>C
ENST00000645119.1:c.324+2271A>C (RPL5) ENSP00000493811.1:n.324+2271A>C
ENST00000645300.1:c.378-272A>C (RPL5) ENSP00000495589.1:n.378-272A>C
ENST00000645908.1:n.262-272A>C (RPL5)
ENST00000315741.5:c.378-272A>C (RPL5) ENSP00000359338.2:n.378-272A>C
ENST00000370321.7:c.528-272A>C (RPL5) ENSP00000359345.2:n.528-272A>C
ENST00000497519.1:n.575A>C (RPL5)
ENST00000615519.4:c.475-4150T>G (DIPK1A) ENSP00000483279.1:n.475-4150T>G
NM_000969.3:c.528-272A>C (RPL5) NP_000960.2:n.528-272A>C
NM_001252273.1:c.475-4150T>G (DIPK1A) NP_001239202.1:n.475-4150T>G
NM_000969.5:c.528-272A>C (RPL5) MANE Select NP_000960.2:n.528-272A>C
NR_146333.1:n.587-272A>C (RPL5)
NM_001252273.2:c.475-4150T>G (DIPK1A) NP_001239202.1:n.475-4150T>G