Canonical Allele Identifier: CA9554005

Gene: RPL18

Linked Data

• ClinVar Variation Id: 742006
• ClinVar RCV Id: RCV000918220
• dbSNP Id: rs200188369
• ExAC: 19:49119208 G / T
• gnomAD v2: 19-49119208-G-T
• gnomAD v3: 19-48615951-G-T
• gnomAD v4: 19-48615951-G-T
• MyVariant Identifiers: chr19:g.49119208G>T (hg19) ; chr19:g.48615951G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48615951G>T , CM000681.2:g.48615951G>T	GRCh38
NC_000019.9:g.49119208G>T , CM000681.1:g.49119208G>T	GRCh37
NC_000019.8:g.53811020G>T	NCBI36
NG_029867.1:g.1661G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000549920.6:c.422-5C>A MANE Select	ENSP00000447001.1:n.422-5C>A
ENST00000084795.9:c.426-5C>A
ENST00000546623.5:c.357-5C>A
ENST00000547892.1:n.3225C>A
ENST00000547897.5:c.298-504C>A	ENSP00000470988.1:n.298-504C>A
ENST00000549273.5:c.422-5C>A	ENSP00000449610.1:n.422-5C>A
ENST00000549370.5:c.*159-5C>A	ENSP00000449067.1:n.*159-5C>A
ENST00000549533.1:n.475C>A
ENST00000549920.5:c.422-5C>A	ENSP00000447001.1:n.422-5C>A
ENST00000550645.5:c.298-46C>A	ENSP00000448899.1:n.298-46C>A
ENST00000550973.5:c.266-5C>A	ENSP00000447894.1:n.266-5C>A
ENST00000551749.5:n.1476-5C>A
ENST00000552347.5:n.1456-5C>A
ENST00000552588.5:c.335-5C>A	ENSP00000449204.1:n.335-5C>A
NM_000979.3:c.422-5C>A	NP_000970.1:n.422-5C>A
NM_001270490.1:c.335-5C>A	NP_001257419.1:n.335-5C>A
NR_073022.1:n.689-5C>A
NM_000979.4:c.422-5C>A MANE Select	NP_000970.1:n.422-5C>A
NM_001270490.2:c.335-5C>A	NP_001257419.1:n.335-5C>A
NR_073022.2:n.449-5C>A