Canonical Allele Identifier: CA952499

Gene: RPL5 DIPK1A SNORD21

Linked Data

• dbSNP Id: rs745446227
• ExAC: 1:93302909 G / A
• gnomAD v2: 1-93302909-G-A
• gnomAD v3: 1-92837352-G-A
• gnomAD v4: 1-92837352-G-A
• MyVariant Identifiers: chr1:g.93302909G>A (hg19) ; chr1:g.92837352G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837352G>A , CM000663.2:g.92837352G>A	GRCh38
NC_000001.10:g.93302909G>A , CM000663.1:g.93302909G>A	GRCh37
NC_000001.9:g.93075497G>A	NCBI36
NG_011779.1:g.10316G>A
NG_033051.1:g.129171C>T
NG_011779.2:g.10367G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.528-104G>A (RPL5) MANE Select	ENSP00000359345.2:n.528-104G>A
ENST00000645119.1:c.324+2439G>A (RPL5)	ENSP00000493811.1:n.324+2439G>A
ENST00000645300.1:c.378-104G>A (RPL5)	ENSP00000495589.1:n.378-104G>A
ENST00000645908.1:n.262-104G>A (RPL5)
ENST00000315741.5:c.378-104G>A (RPL5)	ENSP00000359338.2:n.378-104G>A
ENST00000370321.7:c.528-104G>A (RPL5)	ENSP00000359345.2:n.528-104G>A
ENST00000497519.1:n.743G>A (RPL5)
ENST00000615519.4:c.475-4318C>T (DIPK1A)	ENSP00000483279.1:n.475-4318C>T
NM_000969.3:c.528-104G>A (RPL5)	NP_000960.2:n.528-104G>A
NM_001252273.1:c.475-4318C>T (DIPK1A)	NP_001239202.1:n.475-4318C>T
NR_000006.8:n.64G>A (SNORD21)
NM_000969.5:c.528-104G>A (RPL5) MANE Select	NP_000960.2:n.528-104G>A
NR_146333.1:n.587-104G>A (RPL5)
NM_001252273.2:c.475-4318C>T (DIPK1A)	NP_001239202.1:n.475-4318C>T