Canonical Allele Identifier: CA418789276

Gene: RPL5 DIPK1A SNORD21

Linked Data

• dbSNP Id: rs1326828797
• gnomAD v4: 1-92837374-T-C
• MyVariant Identifiers: chr1:g.93302931T>C (hg19) ; chr1:g.92837374T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837374T>C , CM000663.2:g.92837374T>C	GRCh38
NC_000001.10:g.93302931T>C , CM000663.1:g.93302931T>C	GRCh37
NC_000001.9:g.93075519T>C	NCBI36
NG_011779.1:g.10338T>C
NG_033051.1:g.129149A>G
NG_011779.2:g.10389T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.528-82T>C (RPL5) MANE Select	ENSP00000359345.2:n.528-82T>C
ENST00000645119.1:c.324+2461T>C (RPL5)	ENSP00000493811.1:n.324+2461T>C
ENST00000645300.1:c.378-82T>C (RPL5)	ENSP00000495589.1:n.378-82T>C
ENST00000645908.1:n.262-82T>C (RPL5)
ENST00000315741.5:c.378-82T>C (RPL5)	ENSP00000359338.2:n.378-82T>C
ENST00000370321.7:c.528-82T>C (RPL5)	ENSP00000359345.2:n.528-82T>C
ENST00000497519.1:n.765T>C (RPL5)
ENST00000615519.4:c.475-4340A>G (DIPK1A)	ENSP00000483279.1:n.475-4340A>G
NM_000969.3:c.528-82T>C (RPL5)	NP_000960.2:n.528-82T>C
NM_001252273.1:c.475-4340A>G (DIPK1A)	NP_001239202.1:n.475-4340A>G
NR_000006.8:n.86T>C (SNORD21)
NM_000969.5:c.528-82T>C (RPL5) MANE Select	NP_000960.2:n.528-82T>C
NR_146333.1:n.587-82T>C (RPL5)
NM_001252273.2:c.475-4340A>G (DIPK1A)	NP_001239202.1:n.475-4340A>G