Canonical Allele Identifier: CA2646597490

Linked Data

gnomAD v4: 1-92837756-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837756C>A , CM000663.2:g.92837756C>A GRCh38
NC_000001.10:g.93303313C>A , CM000663.1:g.93303313C>A GRCh37
NC_000001.9:g.93075901C>A NCBI36
NG_011779.1:g.10720C>A
NG_033051.1:g.128767G>T
NG_011779.2:g.10771C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.705+123C>A (RPL5) MANE Select ENSP00000359345.2:n.705+123C>A
ENST00000645119.1:c.325-2795C>A (RPL5) ENSP00000493811.1:n.325-2795C>A
ENST00000645300.1:c.555+123C>A (RPL5) ENSP00000495589.1:n.555+123C>A
ENST00000645908.1:n.562C>A (RPL5)
ENST00000370321.7:c.705+123C>A (RPL5) ENSP00000359345.2:n.705+123C>A
ENST00000497519.1:n.1024+123C>A (RPL5)
ENST00000615519.4:c.475-4722G>T (DIPK1A) ENSP00000483279.1:n.475-4722G>T
NM_000969.3:c.705+123C>A (RPL5) NP_000960.2:n.705+123C>A
NM_001252273.1:c.475-4722G>T (DIPK1A) NP_001239202.1:n.475-4722G>T
NM_000969.5:c.705+123C>A (RPL5) MANE Select NP_000960.2:n.705+123C>A
NR_146333.1:n.764+123C>A (RPL5)
NM_001252273.2:c.475-4722G>T (DIPK1A) NP_001239202.1:n.475-4722G>T