Canonical Allele Identifier: CA524696670

Linked Data

dbSNP Id: rs1157940411
gnomAD v2: 1-93299020-T-C
gnomAD v4: 1-92833463-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92833463T>C , CM000663.2:g.92833463T>C GRCh38
NC_000001.10:g.93299020T>C , CM000663.1:g.93299020T>C GRCh37
NC_000001.9:g.93071608T>C NCBI36
NG_011779.1:g.6427T>C
NG_033051.1:g.133060A>G
NG_011779.2:g.6478T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.73+5T>C (RPL5) MANE Select ENSP00000359345.2:n.73+5T>C
ENST00000645119.1:c.73+5T>C (RPL5) ENSP00000493811.1:n.73+5T>C
ENST00000645300.1:c.-77-82T>C (RPL5) ENSP00000495589.1:n.-77-82T>C
ENST00000646852.1:n.102+5T>C (RPL5)
ENST00000315741.5:c.-78+5T>C (RPL5) ENSP00000359338.2:n.-78+5T>C
ENST00000370321.7:c.73+5T>C (RPL5) ENSP00000359345.2:n.73+5T>C
ENST00000461952.1:n.702T>C (RPL5)
ENST00000470843.5:c.73+5T>C (RPL5) ENSP00000473675.1:n.73+5T>C
ENST00000615519.4:c.475-429A>G (DIPK1A) ENSP00000483279.1:n.475-429A>G
NM_000969.3:c.73+5T>C (RPL5) NP_000960.2:n.73+5T>C
NM_001252273.1:c.475-429A>G (DIPK1A) NP_001239202.1:n.475-429A>G
NM_000969.5:c.73+5T>C (RPL5) MANE Select NP_000960.2:n.73+5T>C
NR_146333.1:n.202+5T>C (RPL5)
NM_001252273.2:c.475-429A>G (DIPK1A) NP_001239202.1:n.475-429A>G