Canonical Allele Identifier: CA952460
Community Standard Title: NM_000969.5(RPL5):c.408T>C (p.Asp136=)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836273T>C , CM000663.2:g.92836273T>C GRCh38
NC_000001.10:g.93301830T>C , CM000663.1:g.93301830T>C GRCh37
NC_000001.9:g.93074418T>C NCBI36
NG_011779.1:g.9237T>C
NG_033051.1:g.130250A>G
NG_011779.2:g.9288T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000969.5:c.408T>C (RPL5) MANE Select NP_000960.2:p.Asp136=
ENST00000370321.8:c.408T>C (RPL5) MANE Select ENSP00000359345.2:p.Asp136=
NM_000969.3:c.408T>C (RPL5) NP_000960.2:p.Asp136=
NM_001252273.1:c.475-3239A>G (DIPK1A) NP_001239202.1:n.475-3239A>G
NM_001252273.2:c.475-3239A>G (DIPK1A) NP_001239202.1:n.475-3239A>G
NR_146333.1:n.467T>C (RPL5)
ENST00000315741.5:c.258T>C (RPL5) ENSP00000359338.2:p.Asp86=
ENST00000370321.7:c.408T>C (RPL5) ENSP00000359345.2:p.Asp136=
ENST00000470843.5:c.*370T>C (RPL5) ENSP00000473675.1:n.*370T>C
ENST00000615519.4:c.475-3239A>G (DIPK1A) ENSP00000483279.1:n.475-3239A>G
ENST00000645119.1:c.324+1360T>C (RPL5) ENSP00000493811.1:n.324+1360T>C
ENST00000645300.1:c.258T>C (RPL5) ENSP00000495589.1:p.Asp86=
ENST00000645908.1:n.142T>C (RPL5)