Canonical Allele Identifier: CA5452488

Gene: RAB18

Linked Data

• ClinVar Variation Id: 299833
• ClinVar RCV Id: RCV000313552
• dbSNP Id: rs114899806
• ExAC: 10:27827721 A / G
• gnomAD v2: 10-27827721-A-G
• gnomAD v3: 10-27538792-A-G
• gnomAD v4: 10-27538792-A-G
• MyVariant Identifiers: chr10:g.27827721A>G (hg19) ; chr10:g.27538792A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27538792A>G , CM000672.2:g.27538792A>G	GRCh38
NC_000010.10:g.27827721A>G , CM000672.1:g.27827721A>G	GRCh37
NC_000010.9:g.27867727A>G	NCBI36
NG_032035.1:g.39619A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535776.6:c.*895A>G	ENSP00000439321.2:n.*895A>G
ENST00000611151.5:c.*1150A>G	ENSP00000483927.2:n.*1150A>G
ENST00000621805.5:c.*741A>G	ENSP00000478479.1:n.*741A>G
ENST00000682082.1:c.*171+570A>G	ENSP00000507542.1:n.*171+570A>G
ENST00000682173.1:c.1040A>G
ENST00000682181.1:c.*1667A>G	ENSP00000507392.1:n.*1667A>G
ENST00000682347.1:c.68-3961A>G	ENSP00000508355.1:n.68-3961A>G
ENST00000682389.1:c.*741A>G	ENSP00000507154.1:n.*741A>G
ENST00000682518.1:n.1377A>G
ENST00000682668.1:c.1715A>G
ENST00000682777.1:n.2529A>G
ENST00000682852.1:c.*1207A>G	ENSP00000508341.1:n.*1207A>G
ENST00000682963.1:c.*741A>G	ENSP00000507532.1:n.*741A>G
ENST00000683030.1:c.150+767A>G
ENST00000683419.1:c.*1083A>G	ENSP00000508094.1:n.*1083A>G
ENST00000683755.1:c.*950A>G	ENSP00000506993.1:n.*950A>G
ENST00000683816.1:c.*1285A>G	ENSP00000507834.1:n.*1285A>G
ENST00000683915.1:c.153+764A>G
ENST00000684134.1:n.6322A>G
ENST00000684191.1:c.68-3210A>G	ENSP00000508185.1:n.68-3210A>G
ENST00000684393.1:c.*1667A>G	ENSP00000507136.1:n.*1667A>G
ENST00000684457.1:c.150+767A>G
ENST00000356940.11:c.*741A>G MANE Select	ENSP00000349415.7:n.*741A>G
ENST00000356940.10:c.*741A>G	ENSP00000349415.6:n.*741A>G
ENST00000535776.5:c.*741A>G	ENSP00000439321.1:n.*741A>G
ENST00000611151.4:c.*741A>G	ENSP00000483927.1:n.*741A>G
ENST00000621805.4:c.1449A>G	ENSP00000478479.1:n.1449A>G
NM_001256410.1:c.*741A>G	NP_001243339.1:n.*741A>G
NM_001256411.1:c.*701A>G	NP_001243340.1:n.*701A>G
NM_001256412.1:c.*741A>G	NP_001243341.1:n.*741A>G
NM_001256415.1:c.*741A>G	NP_001243344.1:n.*741A>G
NM_021252.4:c.*741A>G	NP_067075.1:n.*741A>G
NR_046172.1:n.1496A>G
NM_001256410.2:c.*741A>G	NP_001243339.1:n.*741A>G
NM_001256411.2:c.*701A>G	NP_001243340.1:n.*701A>G
NM_001256412.2:c.*741A>G	NP_001243341.1:n.*741A>G
NM_001256415.2:c.*741A>G	NP_001243344.1:n.*741A>G
NM_021252.5:c.*741A>G MANE Select	NP_067075.1:n.*741A>G
NR_046172.2:n.1366A>G