Canonical Allele Identifier: CA341241963

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836220T>G , CM000663.2:g.92836220T>G GRCh38
NC_000001.10:g.93301777T>G , CM000663.1:g.93301777T>G GRCh37
NC_000001.9:g.93074365T>G NCBI36
NG_011779.1:g.9184T>G
NG_033051.1:g.130303A>C
NG_011779.2:g.9235T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.355T>G (RPL5) MANE Select ENSP00000359345.2:p.Tyr119Asp
ENST00000645119.1:c.324+1307T>G (RPL5) ENSP00000493811.1:n.324+1307T>G
ENST00000645300.1:c.205T>G (RPL5) ENSP00000495589.1:p.Tyr69Asp
ENST00000645908.1:n.89T>G (RPL5)
ENST00000315741.5:c.205T>G (RPL5) ENSP00000359338.2:p.Tyr69Asp
ENST00000370321.7:c.355T>G (RPL5) ENSP00000359345.2:p.Tyr119Asp
ENST00000461952.1:n.1065T>G (RPL5)
ENST00000470843.5:c.*317T>G (RPL5) ENSP00000473675.1:n.*317T>G
ENST00000615519.4:c.475-3186A>C (DIPK1A) ENSP00000483279.1:n.475-3186A>C
NM_000969.3:c.355T>G (RPL5) NP_000960.2:p.Tyr119Asp
NM_001252273.1:c.475-3186A>C (DIPK1A) NP_001239202.1:n.475-3186A>C
NM_000969.5:c.355T>G (RPL5) MANE Select NP_000960.2:p.Tyr119Asp
NR_146333.1:n.421-7T>G (RPL5)
NM_001252273.2:c.475-3186A>C (DIPK1A) NP_001239202.1:n.475-3186A>C