Canonical Allele Identifier: CA1180933599

Linked Data

dbSNP Id: rs1687114895
gnomAD v4: 1-92836128-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92836128T>C , CM000663.2:g.92836128T>C GRCh38
NC_000001.10:g.93301685T>C , CM000663.1:g.93301685T>C GRCh37
NC_000001.9:g.93074273T>C NCBI36
NG_011779.1:g.9092T>C
NG_033051.1:g.130395A>G
NG_011779.2:g.9143T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370321.8:c.325-62T>C (RPL5) MANE Select ENSP00000359345.2:n.325-62T>C
ENST00000645119.1:c.324+1215T>C (RPL5) ENSP00000493811.1:n.324+1215T>C
ENST00000645300.1:c.175-62T>C (RPL5) ENSP00000495589.1:n.175-62T>C
ENST00000645908.1:n.59-62T>C (RPL5)
ENST00000315741.5:c.175-62T>C (RPL5) ENSP00000359338.2:n.175-62T>C
ENST00000370321.7:c.325-62T>C (RPL5) ENSP00000359345.2:n.325-62T>C
ENST00000461952.1:n.1035-62T>C (RPL5)
ENST00000470843.5:c.*287-62T>C (RPL5) ENSP00000473675.1:n.*287-62T>C
ENST00000615519.4:c.475-3094A>G (DIPK1A) ENSP00000483279.1:n.475-3094A>G
NM_000969.3:c.325-62T>C (RPL5) NP_000960.2:n.325-62T>C
NM_001252273.1:c.475-3094A>G (DIPK1A) NP_001239202.1:n.475-3094A>G
NM_000969.5:c.325-62T>C (RPL5) MANE Select NP_000960.2:n.325-62T>C
NR_146333.1:n.421-99T>C (RPL5)
NM_001252273.2:c.475-3094A>G (DIPK1A) NP_001239202.1:n.475-3094A>G