Canonical Allele Identifier: CA10628515

Gene: RAB18

Linked Data

• ClinVar Variation Id: 299850
• ClinVar RCV Id: RCV000312664
• dbSNP Id: rs746613469
• gnomAD v2: 10-27828875-G-C
• gnomAD v3: 10-27539946-G-C
• gnomAD v4: 10-27539946-G-C
• MyVariant Identifiers: chr10:g.27828875G>C (hg19) ; chr10:g.27539946G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27539946G>C , CM000672.2:g.27539946G>C	GRCh38
NC_000010.10:g.27828875G>C , CM000672.1:g.27828875G>C	GRCh37
NC_000010.9:g.27868881G>C	NCBI36
NG_032035.1:g.40773G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611151.5:c.*2304G>C	ENSP00000483927.2:n.*2304G>C
ENST00000682082.1:c.*171+1724G>C	ENSP00000507542.1:n.*171+1724G>C
ENST00000682181.1:c.*2821G>C	ENSP00000507392.1:n.*2821G>C
ENST00000682347.1:c.68-2807G>C	ENSP00000508355.1:n.68-2807G>C
ENST00000682518.1:n.2531G>C
ENST00000682668.1:c.2869G>C
ENST00000682777.1:n.3683G>C
ENST00000682852.1:c.*2361G>C	ENSP00000508341.1:n.*2361G>C
ENST00000683030.1:c.150+1921G>C
ENST00000683915.1:c.153+1918G>C
ENST00000684191.1:c.68-2056G>C	ENSP00000508185.1:n.68-2056G>C
ENST00000684457.1:c.150+1921G>C
ENST00000356940.11:c.*1895G>C MANE Select	ENSP00000349415.7:n.*1895G>C
ENST00000356940.10:c.*1895G>C	ENSP00000349415.6:n.*1895G>C
ENST00000535776.5:c.*1895G>C	ENSP00000439321.1:n.*1895G>C
ENST00000611151.4:c.*1895G>C	ENSP00000483927.1:n.*1895G>C
ENST00000621805.4:c.2603G>C	ENSP00000478479.1:n.2603G>C
NM_001256410.1:c.*1895G>C	NP_001243339.1:n.*1895G>C
NM_001256411.1:c.*1855G>C	NP_001243340.1:n.*1855G>C
NM_001256412.1:c.*1895G>C	NP_001243341.1:n.*1895G>C
NM_001256415.1:c.*1895G>C	NP_001243344.1:n.*1895G>C
NM_021252.4:c.*1895G>C	NP_067075.1:n.*1895G>C
NR_046172.1:n.2650G>C
NM_001256410.2:c.*1895G>C	NP_001243339.1:n.*1895G>C
NM_001256411.2:c.*1855G>C	NP_001243340.1:n.*1855G>C
NM_001256412.2:c.*1895G>C	NP_001243341.1:n.*1895G>C
NM_001256415.2:c.*1895G>C	NP_001243344.1:n.*1895G>C
NM_021252.5:c.*1895G>C MANE Select	NP_067075.1:n.*1895G>C
NR_046172.2:n.2520G>C