Canonical Allele Identifier: CA952518

Linked Data

dbSNP Id: rs375148060
gnomAD v2: 1-93303001-A-T
gnomAD v3: 1-92837444-A-T
gnomAD v4: 1-92837444-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837444A>T , CM000663.2:g.92837444A>T GRCh38
NC_000001.10:g.93303001A>T , CM000663.1:g.93303001A>T GRCh37
NC_000001.9:g.93075589A>T NCBI36
NG_011779.1:g.10408A>T
NG_033051.1:g.129079T>A
NG_011779.2:g.10459A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.528-12A>T (RPL5) MANE Select ENSP00000359345.2:n.528-12A>T
ENST00000645119.1:c.324+2531A>T (RPL5) ENSP00000493811.1:n.324+2531A>T
ENST00000645300.1:c.378-12A>T (RPL5) ENSP00000495589.1:n.378-12A>T
ENST00000645908.1:n.262-12A>T (RPL5)
ENST00000315741.5:c.378-12A>T (RPL5) ENSP00000359338.2:n.378-12A>T
ENST00000370321.7:c.528-12A>T (RPL5) ENSP00000359345.2:n.528-12A>T
ENST00000497519.1:n.835A>T (RPL5)
ENST00000615519.4:c.475-4410T>A (DIPK1A) ENSP00000483279.1:n.475-4410T>A
NM_000969.3:c.528-12A>T (RPL5) NP_000960.2:n.528-12A>T
NM_001252273.1:c.475-4410T>A (DIPK1A) NP_001239202.1:n.475-4410T>A
NM_000969.5:c.528-12A>T (RPL5) MANE Select NP_000960.2:n.528-12A>T
NR_146333.1:n.587-12A>T (RPL5)
NM_001252273.2:c.475-4410T>A (DIPK1A) NP_001239202.1:n.475-4410T>A