Canonical Allele Identifier: CA341243029

Linked Data

dbSNP Id: rs1168298698
gnomAD v3: 1-92837573-T-A
gnomAD v4: 1-92837573-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837573T>A , CM000663.2:g.92837573T>A GRCh38
NC_000001.10:g.93303130T>A , CM000663.1:g.93303130T>A GRCh37
NC_000001.9:g.93075718T>A NCBI36
NG_011779.1:g.10537T>A
NG_033051.1:g.128950A>T
NG_011779.2:g.10588T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.645T>A (RPL5) MANE Select ENSP00000359345.2:p.Asp215Glu
ENST00000645119.1:c.324+2660T>A (RPL5) ENSP00000493811.1:n.324+2660T>A
ENST00000645300.1:c.495T>A (RPL5) ENSP00000495589.1:p.Asp165Glu
ENST00000645908.1:n.379T>A (RPL5)
ENST00000370321.7:c.645T>A (RPL5) ENSP00000359345.2:p.Asp215Glu
ENST00000497519.1:n.964T>A (RPL5)
ENST00000615519.4:c.475-4539A>T (DIPK1A) ENSP00000483279.1:n.475-4539A>T
NM_000969.3:c.645T>A (RPL5) NP_000960.2:p.Asp215Glu
NM_001252273.1:c.475-4539A>T (DIPK1A) NP_001239202.1:n.475-4539A>T
NM_000969.5:c.645T>A (RPL5) MANE Select NP_000960.2:p.Asp215Glu
NR_146333.1:n.704T>A (RPL5)
NM_001252273.2:c.475-4539A>T (DIPK1A) NP_001239202.1:n.475-4539A>T