Canonical Allele Identifier: CA418789238

Gene: RPL5 DIPK1A SNORD21

Linked Data

• dbSNP Id: rs1171190400
• gnomAD v2: 1-93302916-G-T
• gnomAD v4: 1-92837359-G-T
• MyVariant Identifiers: chr1:g.93302916G>T (hg19) ; chr1:g.92837359G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837359G>T , CM000663.2:g.92837359G>T	GRCh38
NC_000001.10:g.93302916G>T , CM000663.1:g.93302916G>T	GRCh37
NC_000001.9:g.93075504G>T	NCBI36
NG_011779.1:g.10323G>T
NG_033051.1:g.129164C>A
NG_011779.2:g.10374G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370321.8:c.528-97G>T (RPL5) MANE Select	ENSP00000359345.2:n.528-97G>T
ENST00000645119.1:c.324+2446G>T (RPL5)	ENSP00000493811.1:n.324+2446G>T
ENST00000645300.1:c.378-97G>T (RPL5)	ENSP00000495589.1:n.378-97G>T
ENST00000645908.1:n.262-97G>T (RPL5)
ENST00000315741.5:c.378-97G>T (RPL5)	ENSP00000359338.2:n.378-97G>T
ENST00000370321.7:c.528-97G>T (RPL5)	ENSP00000359345.2:n.528-97G>T
ENST00000497519.1:n.750G>T (RPL5)
ENST00000615519.4:c.475-4325C>A (DIPK1A)	ENSP00000483279.1:n.475-4325C>A
NM_000969.3:c.528-97G>T (RPL5)	NP_000960.2:n.528-97G>T
NM_001252273.1:c.475-4325C>A (DIPK1A)	NP_001239202.1:n.475-4325C>A
NR_000006.8:n.71G>T (SNORD21)
NM_000969.5:c.528-97G>T (RPL5) MANE Select	NP_000960.2:n.528-97G>T
NR_146333.1:n.587-97G>T (RPL5)
NM_001252273.2:c.475-4325C>A (DIPK1A)	NP_001239202.1:n.475-4325C>A