Canonical Allele Identifier: CA10635306

Gene: RAB18

Linked Data

• ClinVar Variation Id: 299818
• ClinVar RCV Id: RCV000370517
• dbSNP Id: rs748274360
• MyVariant Identifiers: chr10:g.27822702G>C (hg19) ; chr10:g.27533773G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27533773G>C , CM000672.2:g.27533773G>C	GRCh38
NC_000010.10:g.27822702G>C , CM000672.1:g.27822702G>C	GRCh37
NC_000010.9:g.27862708G>C	NCBI36
NG_032035.1:g.34600G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000423465.2:c.124G>C	ENSP00000407872.2:p.Asp42His
ENST00000535776.6:c.385G>C	ENSP00000439321.2:p.Asp129His
ENST00000611151.5:c.*86G>C	ENSP00000483927.2:n.*86G>C
ENST00000621805.5:c.385G>C	ENSP00000478479.1:p.Asp129His
ENST00000682082.1:c.298G>C	ENSP00000507542.1:p.Asp100His
ENST00000682173.1:c.57-155G>C
ENST00000682181.1:c.*603G>C	ENSP00000507392.1:n.*603G>C
ENST00000682389.1:c.187-155G>C	ENSP00000507154.1:n.187-155G>C
ENST00000682518.1:n.239G>C
ENST00000682668.1:c.651G>C
ENST00000682777.1:n.1391G>C
ENST00000682852.1:c.*143G>C	ENSP00000508341.1:n.*143G>C
ENST00000682963.1:c.-54G>C	ENSP00000507532.1:n.-54G>C
ENST00000683042.1:n.382G>C
ENST00000683088.1:n.340G>C
ENST00000683385.1:n.131G>C
ENST00000683419.1:c.*86G>C	ENSP00000508094.1:n.*86G>C
ENST00000683446.1:n.231G>C
ENST00000683538.1:c.651G>C
ENST00000683755.1:c.298G>C	ENSP00000506993.1:p.Asp100His
ENST00000683797.1:c.-54G>C	ENSP00000508179.1:n.-54G>C
ENST00000683816.1:c.*302-155G>C	ENSP00000507834.1:n.*302-155G>C
ENST00000683866.1:c.101G>C
ENST00000683924.1:c.82G>C	ENSP00000507963.1:p.Asp28His
ENST00000684134.1:n.5258G>C
ENST00000684393.1:c.*603G>C	ENSP00000507136.1:n.*603G>C
ENST00000684501.1:c.298G>C	ENSP00000507589.1:p.Asp100His
ENST00000356940.11:c.298G>C MANE Select	ENSP00000349415.7:p.Asp100His
ENST00000356940.10:c.298G>C	ENSP00000349415.6:p.Asp100His
ENST00000375802.7:c.163G>C	ENSP00000364960.3:p.Asp55His
ENST00000423465.1:c.635G>C
ENST00000465772.5:n.291G>C
ENST00000535776.5:c.187-155G>C	ENSP00000439321.1:n.187-155G>C
ENST00000611151.4:c.226G>C	ENSP00000483927.1:p.Asp76His
ENST00000621805.4:c.385G>C	ENSP00000478479.1:p.Asp129His
NM_001256410.1:c.385G>C	NP_001243339.1:p.Asp129His
NM_001256411.1:c.298G>C	NP_001243340.1:p.Asp100His
NM_001256412.1:c.187-155G>C	NP_001243341.1:n.187-155G>C
NM_001256415.1:c.226G>C	NP_001243344.1:p.Asp76His
NM_021252.4:c.298G>C	NP_067075.1:p.Asp100His
NR_046172.1:n.432G>C
NM_001256410.2:c.385G>C	NP_001243339.1:p.Asp129His
NM_001256411.2:c.298G>C	NP_001243340.1:p.Asp100His
NM_001256412.2:c.187-155G>C	NP_001243341.1:n.187-155G>C
NM_001256415.2:c.226G>C	NP_001243344.1:p.Asp76His
NM_021252.5:c.298G>C MANE Select	NP_067075.1:p.Asp100His
NR_046172.2:n.302G>C