Canonical Allele Identifier: CA2646597579

Linked Data

gnomAD v4: 1-92837881-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837881A>G , CM000663.2:g.92837881A>G GRCh38
NC_000001.10:g.93303438A>G , CM000663.1:g.93303438A>G GRCh37
NC_000001.9:g.93076026A>G NCBI36
NG_011779.1:g.10845A>G
NG_033051.1:g.128642T>C
NG_011779.2:g.10896A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.705+248A>G (RPL5) MANE Select ENSP00000359345.2:n.705+248A>G
ENST00000645119.1:c.325-2670A>G (RPL5) ENSP00000493811.1:n.325-2670A>G
ENST00000645300.1:c.555+248A>G (RPL5) ENSP00000495589.1:n.555+248A>G
ENST00000370321.7:c.705+248A>G (RPL5) ENSP00000359345.2:n.705+248A>G
ENST00000497519.1:n.1024+248A>G (RPL5)
ENST00000615519.4:c.475-4847T>C (DIPK1A) ENSP00000483279.1:n.475-4847T>C
NM_000969.3:c.705+248A>G (RPL5) NP_000960.2:n.705+248A>G
NM_001252273.1:c.475-4847T>C (DIPK1A) NP_001239202.1:n.475-4847T>C
NM_000969.5:c.705+248A>G (RPL5) MANE Select NP_000960.2:n.705+248A>G
NR_146333.1:n.764+248A>G (RPL5)
NM_001252273.2:c.475-4847T>C (DIPK1A) NP_001239202.1:n.475-4847T>C