Canonical Allele Identifier: CA341242904

Gene: RPL5 DIPK1A

Linked Data

• dbSNP Id: rs1293650338
• gnomAD v2: 1-93303078-A-G
• gnomAD v4: 1-92837521-A-G
• MyVariant Identifiers: chr1:g.93303078A>G (hg19) ; chr1:g.92837521A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837521A>G , CM000663.2:g.92837521A>G	GRCh38
NC_000001.10:g.93303078A>G , CM000663.1:g.93303078A>G	GRCh37
NC_000001.9:g.93075666A>G	NCBI36
NG_011779.1:g.10485A>G
NG_033051.1:g.129002T>C
NG_011779.2:g.10536A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.593A>G (RPL5) MANE Select	ENSP00000359345.2:p.His198Arg
ENST00000645119.1:c.324+2608A>G (RPL5)	ENSP00000493811.1:n.324+2608A>G
ENST00000645300.1:c.443A>G (RPL5)	ENSP00000495589.1:p.His148Arg
ENST00000645908.1:n.327A>G (RPL5)
ENST00000370321.7:c.593A>G (RPL5)	ENSP00000359345.2:p.His198Arg
ENST00000497519.1:n.912A>G (RPL5)
ENST00000615519.4:c.475-4487T>C (DIPK1A)	ENSP00000483279.1:n.475-4487T>C
NM_000969.3:c.593A>G (RPL5)	NP_000960.2:p.His198Arg
NM_001252273.1:c.475-4487T>C (DIPK1A)	NP_001239202.1:n.475-4487T>C
NM_000969.5:c.593A>G (RPL5) MANE Select	NP_000960.2:p.His198Arg
NR_146333.1:n.652A>G (RPL5)
NM_001252273.2:c.475-4487T>C (DIPK1A)	NP_001239202.1:n.475-4487T>C