Canonical Allele Identifier: CA26758683

Linked Data

dbSNP Id: rs193286679
gnomAD v2: 1-93301670-G-A
gnomAD v3: 1-92836113-G-A
gnomAD v4: 1-92836113-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836113G>A , CM000663.2:g.92836113G>A GRCh38
NC_000001.10:g.93301670G>A , CM000663.1:g.93301670G>A GRCh37
NC_000001.9:g.93074258G>A NCBI36
NG_011779.1:g.9077G>A
NG_033051.1:g.130410C>T
NG_011779.2:g.9128G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.325-77G>A (RPL5) MANE Select ENSP00000359345.2:n.325-77G>A
ENST00000645119.1:c.324+1200G>A (RPL5) ENSP00000493811.1:n.324+1200G>A
ENST00000645300.1:c.175-77G>A (RPL5) ENSP00000495589.1:n.175-77G>A
ENST00000645908.1:n.59-77G>A (RPL5)
ENST00000315741.5:c.175-77G>A (RPL5) ENSP00000359338.2:n.175-77G>A
ENST00000370321.7:c.325-77G>A (RPL5) ENSP00000359345.2:n.325-77G>A
ENST00000461952.1:n.1035-77G>A (RPL5)
ENST00000470843.5:c.*287-77G>A (RPL5) ENSP00000473675.1:n.*287-77G>A
ENST00000615519.4:c.475-3079C>T (DIPK1A) ENSP00000483279.1:n.475-3079C>T
NM_000969.3:c.325-77G>A (RPL5) NP_000960.2:n.325-77G>A
NM_001252273.1:c.475-3079C>T (DIPK1A) NP_001239202.1:n.475-3079C>T
NM_000969.5:c.325-77G>A (RPL5) MANE Select NP_000960.2:n.325-77G>A
NR_146333.1:n.421-114G>A (RPL5)
NM_001252273.2:c.475-3079C>T (DIPK1A) NP_001239202.1:n.475-3079C>T