Canonical Allele Identifier: CA5452549

Gene: RAB18

Linked Data

• ClinVar Variation Id: 299858
• ClinVar RCV Id: RCV000266231
• dbSNP Id: rs145293804
• ExAC: 10:27829509 G / A
• gnomAD v2: 10-27829509-G-A
• gnomAD v3: 10-27540580-G-A
• gnomAD v4: 10-27540580-G-A
• MyVariant Identifiers: chr10:g.27829509G>A (hg19) ; chr10:g.27540580G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27540580G>A , CM000672.2:g.27540580G>A	GRCh38
NC_000010.10:g.27829509G>A , CM000672.1:g.27829509G>A	GRCh37
NC_000010.9:g.27869515G>A	NCBI36
NG_032035.1:g.41407G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611151.5:c.*2938G>A	ENSP00000483927.2:n.*2938G>A
ENST00000682082.1:c.*172-2173G>A	ENSP00000507542.1:n.*172-2173G>A
ENST00000682347.1:c.68-2173G>A	ENSP00000508355.1:n.68-2173G>A
ENST00000682777.1:n.4317G>A
ENST00000683030.1:c.151-2173G>A
ENST00000683915.1:c.154-2173G>A
ENST00000684191.1:c.68-1422G>A	ENSP00000508185.1:n.68-1422G>A
ENST00000684457.1:c.151-1422G>A
ENST00000356940.11:c.*2529G>A MANE Select	ENSP00000349415.7:n.*2529G>A
ENST00000356940.10:c.*2529G>A	ENSP00000349415.6:n.*2529G>A
ENST00000535776.5:c.*2529G>A	ENSP00000439321.1:n.*2529G>A
ENST00000611151.4:c.*2529G>A	ENSP00000483927.1:n.*2529G>A
ENST00000621805.4:c.3237G>A	ENSP00000478479.1:n.3237G>A
NM_001256410.1:c.*2529G>A	NP_001243339.1:n.*2529G>A
NM_001256411.1:c.*2489G>A	NP_001243340.1:n.*2489G>A
NM_001256412.1:c.*2529G>A	NP_001243341.1:n.*2529G>A
NM_001256415.1:c.*2529G>A	NP_001243344.1:n.*2529G>A
NM_021252.4:c.*2529G>A	NP_067075.1:n.*2529G>A
NR_046172.1:n.3284G>A
NM_001256410.2:c.*2529G>A	NP_001243339.1:n.*2529G>A
NM_001256411.2:c.*2489G>A	NP_001243340.1:n.*2489G>A
NM_001256412.2:c.*2529G>A	NP_001243341.1:n.*2529G>A
NM_001256415.2:c.*2529G>A	NP_001243344.1:n.*2529G>A
NM_021252.5:c.*2529G>A MANE Select	NP_067075.1:n.*2529G>A
NR_046172.2:n.3154G>A