Canonical Allele Identifier: CA1004467181

Linked Data

dbSNP Id: rs1687186031
gnomAD v3: 1-92837777-T-A
gnomAD v4: 1-92837777-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837777T>A , CM000663.2:g.92837777T>A GRCh38
NC_000001.10:g.93303334T>A , CM000663.1:g.93303334T>A GRCh37
NC_000001.9:g.93075922T>A NCBI36
NG_011779.1:g.10741T>A
NG_033051.1:g.128746A>T
NG_011779.2:g.10792T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.705+144T>A (RPL5) MANE Select ENSP00000359345.2:n.705+144T>A
ENST00000645119.1:c.325-2774T>A (RPL5) ENSP00000493811.1:n.325-2774T>A
ENST00000645300.1:c.555+144T>A (RPL5) ENSP00000495589.1:n.555+144T>A
ENST00000645908.1:n.583T>A (RPL5)
ENST00000370321.7:c.705+144T>A (RPL5) ENSP00000359345.2:n.705+144T>A
ENST00000497519.1:n.1024+144T>A (RPL5)
ENST00000615519.4:c.475-4743A>T (DIPK1A) ENSP00000483279.1:n.475-4743A>T
NM_000969.3:c.705+144T>A (RPL5) NP_000960.2:n.705+144T>A
NM_001252273.1:c.475-4743A>T (DIPK1A) NP_001239202.1:n.475-4743A>T
NM_000969.5:c.705+144T>A (RPL5) MANE Select NP_000960.2:n.705+144T>A
NR_146333.1:n.764+144T>A (RPL5)
NM_001252273.2:c.475-4743A>T (DIPK1A) NP_001239202.1:n.475-4743A>T