Canonical Allele Identifier: CA418789124

Linked Data

gnomAD v4: 1-92837319-G-C
MyVariant Identifiers: chr1:g.93302876G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.92837319G>C , CM000663.2:g.92837319G>C GRCh38
NC_000001.10:g.93302876G>C , CM000663.1:g.93302876G>C GRCh37
NC_000001.9:g.93075464G>C NCBI36
NG_011779.1:g.10283G>C
NG_033051.1:g.129204C>G
NG_011779.2:g.10334G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370321.8:c.528-137G>C (RPL5) MANE Select ENSP00000359345.2:n.528-137G>C
ENST00000645119.1:c.324+2406G>C (RPL5) ENSP00000493811.1:n.324+2406G>C
ENST00000645300.1:c.378-137G>C (RPL5) ENSP00000495589.1:n.378-137G>C
ENST00000645908.1:n.262-137G>C (RPL5)
ENST00000315741.5:c.378-137G>C (RPL5) ENSP00000359338.2:n.378-137G>C
ENST00000370321.7:c.528-137G>C (RPL5) ENSP00000359345.2:n.528-137G>C
ENST00000497519.1:n.710G>C (RPL5)
ENST00000615519.4:c.475-4285C>G (DIPK1A) ENSP00000483279.1:n.475-4285C>G
NM_000969.3:c.528-137G>C (RPL5) NP_000960.2:n.528-137G>C
NM_001252273.1:c.475-4285C>G (DIPK1A) NP_001239202.1:n.475-4285C>G
NR_000006.8:n.31G>C (SNORD21)
NM_000969.5:c.528-137G>C (RPL5) MANE Select NP_000960.2:n.528-137G>C
NR_146333.1:n.587-137G>C (RPL5)
NM_001252273.2:c.475-4285C>G (DIPK1A) NP_001239202.1:n.475-4285C>G