Canonical Allele Identifier: CA418789301

Gene: RPL5 DIPK1A SNORD21

Linked Data

• gnomAD v4: 1-92837383-C-A
• MyVariant Identifiers: chr1:g.93302940C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837383C>A , CM000663.2:g.92837383C>A	GRCh38
NC_000001.10:g.93302940C>A , CM000663.1:g.93302940C>A	GRCh37
NC_000001.9:g.93075528C>A	NCBI36
NG_011779.1:g.10347C>A
NG_033051.1:g.129140G>T
NG_011779.2:g.10398C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.528-73C>A (RPL5) MANE Select	ENSP00000359345.2:n.528-73C>A
ENST00000645119.1:c.324+2470C>A (RPL5)	ENSP00000493811.1:n.324+2470C>A
ENST00000645300.1:c.378-73C>A (RPL5)	ENSP00000495589.1:n.378-73C>A
ENST00000645908.1:n.262-73C>A (RPL5)
ENST00000315741.5:c.378-73C>A (RPL5)	ENSP00000359338.2:n.378-73C>A
ENST00000370321.7:c.528-73C>A (RPL5)	ENSP00000359345.2:n.528-73C>A
ENST00000497519.1:n.774C>A (RPL5)
ENST00000615519.4:c.475-4349G>T (DIPK1A)	ENSP00000483279.1:n.475-4349G>T
NM_000969.3:c.528-73C>A (RPL5)	NP_000960.2:n.528-73C>A
NM_001252273.1:c.475-4349G>T (DIPK1A)	NP_001239202.1:n.475-4349G>T
NR_000006.8:n.95C>A (SNORD21)
NM_000969.5:c.528-73C>A (RPL5) MANE Select	NP_000960.2:n.528-73C>A
NR_146333.1:n.587-73C>A (RPL5)
NM_001252273.2:c.475-4349G>T (DIPK1A)	NP_001239202.1:n.475-4349G>T