Canonical Allele Identifier: CA341242950

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837539T>G , CM000663.2:g.92837539T>G GRCh38
NC_000001.10:g.93303096T>G , CM000663.1:g.93303096T>G GRCh37
NC_000001.9:g.93075684T>G NCBI36
NG_011779.1:g.10503T>G
NG_033051.1:g.128984A>C
NG_011779.2:g.10554T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.611T>G (RPL5) MANE Select ENSP00000359345.2:p.Val204Gly
ENST00000645119.1:c.324+2626T>G (RPL5) ENSP00000493811.1:n.324+2626T>G
ENST00000645300.1:c.461T>G (RPL5) ENSP00000495589.1:p.Val154Gly
ENST00000645908.1:n.345T>G (RPL5)
ENST00000370321.7:c.611T>G (RPL5) ENSP00000359345.2:p.Val204Gly
ENST00000497519.1:n.930T>G (RPL5)
ENST00000615519.4:c.475-4505A>C (DIPK1A) ENSP00000483279.1:n.475-4505A>C
NM_000969.3:c.611T>G (RPL5) NP_000960.2:p.Val204Gly
NM_001252273.1:c.475-4505A>C (DIPK1A) NP_001239202.1:n.475-4505A>C
NM_000969.5:c.611T>G (RPL5) MANE Select NP_000960.2:p.Val204Gly
NR_146333.1:n.670T>G (RPL5)
NM_001252273.2:c.475-4505A>C (DIPK1A) NP_001239202.1:n.475-4505A>C