Canonical Allele Identifier: CA341241993

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836232G>C , CM000663.2:g.92836232G>C GRCh38
NC_000001.10:g.93301789G>C , CM000663.1:g.93301789G>C GRCh37
NC_000001.9:g.93074377G>C NCBI36
NG_011779.1:g.9196G>C
NG_033051.1:g.130291C>G
NG_011779.2:g.9247G>C

Transcript Alleles

HGVS Amino-acid Change
NM_000969.5:c.367G>C (RPL5) MANE Select NP_000960.2:p.Val123Leu
ENST00000370321.8:c.367G>C (RPL5) MANE Select ENSP00000359345.2:p.Val123Leu
NM_000969.3:c.367G>C (RPL5) NP_000960.2:p.Val123Leu
NM_001252273.1:c.475-3198C>G (DIPK1A) NP_001239202.1:n.475-3198C>G
NM_001252273.2:c.475-3198C>G (DIPK1A) NP_001239202.1:n.475-3198C>G
NR_146333.1:n.426G>C (RPL5)
ENST00000315741.5:c.217G>C (RPL5) ENSP00000359338.2:p.Val73Leu
ENST00000370321.7:c.367G>C (RPL5) ENSP00000359345.2:p.Val123Leu
ENST00000461952.1:n.1077G>C (RPL5)
ENST00000470843.5:c.*329G>C (RPL5) ENSP00000473675.1:n.*329G>C
ENST00000615519.4:c.475-3198C>G (DIPK1A) ENSP00000483279.1:n.475-3198C>G
ENST00000645119.1:c.324+1319G>C (RPL5) ENSP00000493811.1:n.324+1319G>C
ENST00000645300.1:c.217G>C (RPL5) ENSP00000495589.1:p.Val73Leu
ENST00000645908.1:n.101G>C (RPL5)