Canonical Allele Identifier: CA5452603

Gene: RAB18

Linked Data

• ClinVar Variation Id: 299876
• ClinVar RCV Id: RCV000300859
• dbSNP Id: rs10829269
• ExAC: 10:27830676 T / A
• gnomAD v2: 10-27830676-T-A
• gnomAD v3: 10-27541747-T-A
• gnomAD v4: 10-27541747-T-A
• MyVariant Identifiers: chr10:g.27830676T>A (hg19) ; chr10:g.27541747T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27541747T>A , CM000672.2:g.27541747T>A	GRCh38
NC_000010.10:g.27830676T>A , CM000672.1:g.27830676T>A	GRCh37
NC_000010.9:g.27870682T>A	NCBI36
NG_032035.1:g.42574T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611151.5:c.*4105T>A	ENSP00000483927.2:n.*4105T>A
ENST00000682082.1:c.*172-1006T>A	ENSP00000507542.1:n.*172-1006T>A
ENST00000682347.1:c.68-1006T>A	ENSP00000508355.1:n.68-1006T>A
ENST00000682777.1:n.5484T>A
ENST00000683030.1:c.151-1006T>A
ENST00000683915.1:c.154-1006T>A
ENST00000684191.1:c.68-255T>A	ENSP00000508185.1:n.68-255T>A
ENST00000684457.1:c.151-255T>A
ENST00000356940.11:c.*3696T>A MANE Select	ENSP00000349415.7:n.*3696T>A
ENST00000356940.10:c.*3696T>A	ENSP00000349415.6:n.*3696T>A
ENST00000535776.5:c.*3696T>A	ENSP00000439321.1:n.*3696T>A
ENST00000611151.4:c.*3696T>A	ENSP00000483927.1:n.*3696T>A
ENST00000621805.4:c.4404T>A	ENSP00000478479.1:n.4404T>A
NM_001256410.1:c.*3696T>A	NP_001243339.1:n.*3696T>A
NM_001256411.1:c.*3656T>A	NP_001243340.1:n.*3656T>A
NM_001256412.1:c.*3696T>A	NP_001243341.1:n.*3696T>A
NM_001256415.1:c.*3696T>A	NP_001243344.1:n.*3696T>A
NM_021252.4:c.*3696T>A	NP_067075.1:n.*3696T>A
NR_046172.1:n.4451T>A
NM_001256410.2:c.*3696T>A	NP_001243339.1:n.*3696T>A
NM_001256411.2:c.*3656T>A	NP_001243340.1:n.*3656T>A
NM_001256412.2:c.*3696T>A	NP_001243341.1:n.*3696T>A
NM_001256415.2:c.*3696T>A	NP_001243344.1:n.*3696T>A
NM_021252.5:c.*3696T>A MANE Select	NP_067075.1:n.*3696T>A
NR_046172.2:n.4321T>A