Canonical Allele Identifier: CA952502

Gene: RPL5 DIPK1A SNORD21

Linked Data

• dbSNP Id: rs749211199
• ExAC: 1:93302920 C / A
• gnomAD v2: 1-93302920-C-A
• gnomAD v4: 1-92837363-C-A
• MyVariant Identifiers: chr1:g.93302920C>A (hg19) ; chr1:g.92837363C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.92837363C>A , CM000663.2:g.92837363C>A	GRCh38
NC_000001.10:g.93302920C>A , CM000663.1:g.93302920C>A	GRCh37
NC_000001.9:g.93075508C>A	NCBI36
NG_011779.1:g.10327C>A
NG_033051.1:g.129160G>T
NG_011779.2:g.10378C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370321.8:c.528-93C>A (RPL5) MANE Select	ENSP00000359345.2:n.528-93C>A
ENST00000645119.1:c.324+2450C>A (RPL5)	ENSP00000493811.1:n.324+2450C>A
ENST00000645300.1:c.378-93C>A (RPL5)	ENSP00000495589.1:n.378-93C>A
ENST00000645908.1:n.262-93C>A (RPL5)
ENST00000315741.5:c.378-93C>A (RPL5)	ENSP00000359338.2:n.378-93C>A
ENST00000370321.7:c.528-93C>A (RPL5)	ENSP00000359345.2:n.528-93C>A
ENST00000497519.1:n.754C>A (RPL5)
ENST00000615519.4:c.475-4329G>T (DIPK1A)	ENSP00000483279.1:n.475-4329G>T
NM_000969.3:c.528-93C>A (RPL5)	NP_000960.2:n.528-93C>A
NM_001252273.1:c.475-4329G>T (DIPK1A)	NP_001239202.1:n.475-4329G>T
NR_000006.8:n.75C>A (SNORD21)
NM_000969.5:c.528-93C>A (RPL5) MANE Select	NP_000960.2:n.528-93C>A
NR_146333.1:n.587-93C>A (RPL5)
NM_001252273.2:c.475-4329G>T (DIPK1A)	NP_001239202.1:n.475-4329G>T