Canonical Allele Identifier: CA1139656206

Linked Data

ClinVar Variation Id: 875588
ClinVar RCV Id: RCV001099575
dbSNP Id: rs1686989669

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92833379T>C , CM000663.2:g.92833379T>C GRCh38
NC_000001.10:g.93298936T>C , CM000663.1:g.93298936T>C GRCh37
NC_000001.9:g.93071524T>C NCBI36
NG_011779.1:g.6343T>C
NG_033051.1:g.133144A>G
NG_011779.2:g.6394T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.4-10T>C (RPL5) MANE Select ENSP00000359345.2:n.4-10T>C
ENST00000645119.1:c.4-10T>C (RPL5) ENSP00000493811.1:n.4-10T>C
ENST00000645300.1:c.-77-166T>C (RPL5) ENSP00000495589.1:n.-77-166T>C
ENST00000646852.1:n.33-10T>C (RPL5)
ENST00000315741.5:c.-147-10T>C (RPL5) ENSP00000359338.2:n.-147-10T>C
ENST00000370321.7:c.4-10T>C (RPL5) ENSP00000359345.2:n.4-10T>C
ENST00000461952.1:n.618T>C (RPL5)
ENST00000470843.5:c.4-10T>C (RPL5) ENSP00000473675.1:n.4-10T>C
ENST00000615519.4:c.475-345A>G (DIPK1A) ENSP00000483279.1:n.475-345A>G
NM_000969.3:c.4-10T>C (RPL5) NP_000960.2:n.4-10T>C
NM_001252273.1:c.475-345A>G (DIPK1A) NP_001239202.1:n.475-345A>G
NM_000969.5:c.4-10T>C (RPL5) MANE Select NP_000960.2:n.4-10T>C
NR_146333.1:n.133-10T>C (RPL5)
NM_001252273.2:c.475-345A>G (DIPK1A) NP_001239202.1:n.475-345A>G