Canonical Allele Identifier: CA26758719

Linked Data

dbSNP Id: rs1049301805
gnomAD v3: 1-92836129-A-G
gnomAD v4: 1-92836129-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836129A>G , CM000663.2:g.92836129A>G GRCh38
NC_000001.10:g.93301686A>G , CM000663.1:g.93301686A>G GRCh37
NC_000001.9:g.93074274A>G NCBI36
NG_011779.1:g.9093A>G
NG_033051.1:g.130394T>C
NG_011779.2:g.9144A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.325-61A>G (RPL5) MANE Select ENSP00000359345.2:n.325-61A>G
ENST00000645119.1:c.324+1216A>G (RPL5) ENSP00000493811.1:n.324+1216A>G
ENST00000645300.1:c.175-61A>G (RPL5) ENSP00000495589.1:n.175-61A>G
ENST00000645908.1:n.59-61A>G (RPL5)
ENST00000315741.5:c.175-61A>G (RPL5) ENSP00000359338.2:n.175-61A>G
ENST00000370321.7:c.325-61A>G (RPL5) ENSP00000359345.2:n.325-61A>G
ENST00000461952.1:n.1035-61A>G (RPL5)
ENST00000470843.5:c.*287-61A>G (RPL5) ENSP00000473675.1:n.*287-61A>G
ENST00000615519.4:c.475-3095T>C (DIPK1A) ENSP00000483279.1:n.475-3095T>C
NM_000969.3:c.325-61A>G (RPL5) NP_000960.2:n.325-61A>G
NM_001252273.1:c.475-3095T>C (DIPK1A) NP_001239202.1:n.475-3095T>C
NM_000969.5:c.325-61A>G (RPL5) MANE Select NP_000960.2:n.325-61A>G
NR_146333.1:n.421-98A>G (RPL5)
NM_001252273.2:c.475-3095T>C (DIPK1A) NP_001239202.1:n.475-3095T>C