Canonical Allele Identifier: CA952515

Linked Data

dbSNP Id: rs756830726
gnomAD v2: 1-93302985-T-C
gnomAD v3: 1-92837428-T-C
gnomAD v4: 1-92837428-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837428T>C , CM000663.2:g.92837428T>C GRCh38
NC_000001.10:g.93302985T>C , CM000663.1:g.93302985T>C GRCh37
NC_000001.9:g.93075573T>C NCBI36
NG_011779.1:g.10392T>C
NG_033051.1:g.129095A>G
NG_011779.2:g.10443T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.528-28T>C (RPL5) MANE Select ENSP00000359345.2:n.528-28T>C
ENST00000645119.1:c.324+2515T>C (RPL5) ENSP00000493811.1:n.324+2515T>C
ENST00000645300.1:c.378-28T>C (RPL5) ENSP00000495589.1:n.378-28T>C
ENST00000645908.1:n.262-28T>C (RPL5)
ENST00000315741.5:c.378-28T>C (RPL5) ENSP00000359338.2:n.378-28T>C
ENST00000370321.7:c.528-28T>C (RPL5) ENSP00000359345.2:n.528-28T>C
ENST00000497519.1:n.819T>C (RPL5)
ENST00000615519.4:c.475-4394A>G (DIPK1A) ENSP00000483279.1:n.475-4394A>G
NM_000969.3:c.528-28T>C (RPL5) NP_000960.2:n.528-28T>C
NM_001252273.1:c.475-4394A>G (DIPK1A) NP_001239202.1:n.475-4394A>G
NM_000969.5:c.528-28T>C (RPL5) MANE Select NP_000960.2:n.528-28T>C
NR_146333.1:n.587-28T>C (RPL5)
NM_001252273.2:c.475-4394A>G (DIPK1A) NP_001239202.1:n.475-4394A>G