Canonical Allele Identifier: CA9554308

Gene: RPL18

Linked Data

• ClinVar Variation Id: 2071115
• ClinVar RCV Id: RCV002949220 ; RCV003943658
• dbSNP Id: rs143728553
• ExAC: 19:49121108 G / T
• gnomAD v2: 19-49121108-G-T
• gnomAD v3: 19-48617851-G-T
• gnomAD v4: 19-48617851-G-T
• MyVariant Identifiers: chr19:g.49121108G>T (hg19) ; chr19:g.48617851G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48617851G>T , CM000681.2:g.48617851G>T	GRCh38
NC_000019.9:g.49121108G>T , CM000681.1:g.49121108G>T	GRCh37
NC_000019.8:g.53812920G>T	NCBI36
NG_029867.1:g.3561G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549920.6:c.30C>A MANE Select	ENSP00000447001.1:p.Asp10Glu
ENST00000084795.9:c.34C>A
ENST00000547892.1:n.1325C>A
ENST00000547897.5:c.30C>A	ENSP00000470988.1:p.Asp10Glu
ENST00000549273.5:c.30C>A	ENSP00000449610.1:p.Asp10Glu
ENST00000549370.5:c.30C>A	ENSP00000449067.1:p.Asp10Glu
ENST00000549920.5:c.30C>A	ENSP00000447001.1:p.Asp10Glu
ENST00000550645.5:c.30C>A	ENSP00000448899.1:p.Asp10Glu
ENST00000550671.1:n.71C>A
ENST00000550973.5:c.-127C>A	ENSP00000447894.1:n.-127C>A
ENST00000551749.5:n.70C>A
ENST00000552347.5:n.50C>A
ENST00000552588.5:c.4-428C>A	ENSP00000449204.1:n.4-428C>A
ENST00000552705.5:n.70C>A
ENST00000552851.1:n.25-428C>A
NM_000979.3:c.30C>A	NP_000970.1:p.Asp10Glu
NM_001270490.1:c.4-428C>A	NP_001257419.1:n.4-428C>A
NR_073022.1:n.305C>A
NM_000979.4:c.30C>A MANE Select	NP_000970.1:p.Asp10Glu
NM_001270490.2:c.4-428C>A	NP_001257419.1:n.4-428C>A
NR_073022.2:n.65C>A