Canonical Allele Identifier: CA5452584

Gene: RAB18

Linked Data

• ClinVar Variation Id: 299871
• ClinVar RCV Id: RCV000341982
• dbSNP Id: rs11597728
• ExAC: 10:27830456 A / G
• gnomAD v2: 10-27830456-A-G
• gnomAD v3: 10-27541527-A-G
• gnomAD v4: 10-27541527-A-G
• MyVariant Identifiers: chr10:g.27830456A>G (hg19) ; chr10:g.27541527A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27541527A>G , CM000672.2:g.27541527A>G	GRCh38
NC_000010.10:g.27830456A>G , CM000672.1:g.27830456A>G	GRCh37
NC_000010.9:g.27870462A>G	NCBI36
NG_032035.1:g.42354A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611151.5:c.*3885A>G	ENSP00000483927.2:n.*3885A>G
ENST00000682082.1:c.*172-1226A>G	ENSP00000507542.1:n.*172-1226A>G
ENST00000682347.1:c.68-1226A>G	ENSP00000508355.1:n.68-1226A>G
ENST00000682777.1:n.5264A>G
ENST00000683030.1:c.151-1226A>G
ENST00000683915.1:c.154-1226A>G
ENST00000684191.1:c.68-475A>G	ENSP00000508185.1:n.68-475A>G
ENST00000684457.1:c.151-475A>G
ENST00000356940.11:c.*3476A>G MANE Select	ENSP00000349415.7:n.*3476A>G
ENST00000356940.10:c.*3476A>G	ENSP00000349415.6:n.*3476A>G
ENST00000535776.5:c.*3476A>G	ENSP00000439321.1:n.*3476A>G
ENST00000611151.4:c.*3476A>G	ENSP00000483927.1:n.*3476A>G
ENST00000621805.4:c.4184A>G	ENSP00000478479.1:n.4184A>G
NM_001256410.1:c.*3476A>G	NP_001243339.1:n.*3476A>G
NM_001256411.1:c.*3436A>G	NP_001243340.1:n.*3436A>G
NM_001256412.1:c.*3476A>G	NP_001243341.1:n.*3476A>G
NM_001256415.1:c.*3476A>G	NP_001243344.1:n.*3476A>G
NM_021252.4:c.*3476A>G	NP_067075.1:n.*3476A>G
NR_046172.1:n.4231A>G
NM_001256410.2:c.*3476A>G	NP_001243339.1:n.*3476A>G
NM_001256411.2:c.*3436A>G	NP_001243340.1:n.*3436A>G
NM_001256412.2:c.*3476A>G	NP_001243341.1:n.*3476A>G
NM_001256415.2:c.*3476A>G	NP_001243344.1:n.*3476A>G
NM_021252.5:c.*3476A>G MANE Select	NP_067075.1:n.*3476A>G
NR_046172.2:n.4101A>G