Canonical Allele Identifier: CA341241443

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92834781T>G , CM000663.2:g.92834781T>G GRCh38
NC_000001.10:g.93300338T>G , CM000663.1:g.93300338T>G GRCh37
NC_000001.9:g.93072926T>G NCBI36
NG_011779.1:g.7745T>G
NG_033051.1:g.131742A>C
NG_011779.2:g.7796T>G

Transcript Alleles

HGVS Amino-acid Change
NM_000969.5:c.192T>G (RPL5) MANE Select NP_000960.2:p.Ile64Met
ENST00000370321.8:c.192T>G (RPL5) MANE Select ENSP00000359345.2:p.Ile64Met
NM_000969.3:c.192T>G (RPL5) NP_000960.2:p.Ile64Met
NM_001252273.1:c.475-1747A>C (DIPK1A) NP_001239202.1:n.475-1747A>C
NM_001252273.2:c.475-1747A>C (DIPK1A) NP_001239202.1:n.475-1747A>C
NR_146333.1:n.321T>G (RPL5)
ENST00000315741.5:c.42T>G (RPL5) ENSP00000359338.2:p.Ile14Met
ENST00000370321.7:c.192T>G (RPL5) ENSP00000359345.2:p.Ile64Met
ENST00000461952.1:n.902T>G (RPL5)
ENST00000470843.5:c.*154T>G (RPL5) ENSP00000473675.1:n.*154T>G
ENST00000615519.4:c.475-1747A>C (DIPK1A) ENSP00000483279.1:n.475-1747A>C
ENST00000645119.1:c.192T>G (RPL5) ENSP00000493811.1:p.Ile64Met
ENST00000645300.1:c.42T>G (RPL5) ENSP00000495589.1:p.Ile14Met
ENST00000646852.1:n.221T>G (RPL5)