Canonical Allele Identifier: CA10635667

Gene: RAB18

Linked Data

• ClinVar Variation Id: 299820
• ClinVar RCV Id: RCV000331024
• dbSNP Id: rs886046967
• gnomAD v2: 10-27826813-G-A
• gnomAD v3: 10-27537884-G-A
• gnomAD v4: 10-27537884-G-A
• MyVariant Identifiers: chr10:g.27826813G>A (hg19) ; chr10:g.27537884G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27537884G>A , CM000672.2:g.27537884G>A	GRCh38
NC_000010.10:g.27826813G>A , CM000672.1:g.27826813G>A	GRCh37
NC_000010.9:g.27866819G>A	NCBI36
NG_032035.1:g.38711G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000535776.6:c.539G>A	ENSP00000439321.2:p.Cys180Tyr
ENST00000611151.5:c.*242G>A	ENSP00000483927.2:n.*242G>A
ENST00000621805.5:c.541G>A	ENSP00000478479.1:p.Ala181Thr
ENST00000682082.1:c.454G>A	ENSP00000507542.1:p.Ala152Thr
ENST00000682173.1:c.132G>A
ENST00000682181.1:c.*759G>A	ENSP00000507392.1:n.*759G>A
ENST00000682347.1:c.67+3890G>A	ENSP00000508355.1:n.67+3890G>A
ENST00000682389.1:c.262G>A	ENSP00000507154.1:p.Ala88Thr
ENST00000682518.1:n.469G>A
ENST00000682668.1:c.807G>A
ENST00000682777.1:n.1621G>A
ENST00000682852.1:c.*299G>A	ENSP00000508341.1:n.*299G>A
ENST00000682963.1:c.103G>A	ENSP00000507532.1:p.Ala35Thr
ENST00000683030.1:c.9G>A
ENST00000683042.1:n.612G>A
ENST00000683385.1:n.361G>A
ENST00000683419.1:c.*175G>A	ENSP00000508094.1:n.*175G>A
ENST00000683446.1:n.387G>A
ENST00000683538.1:c.811G>A
ENST00000683755.1:c.*42G>A	ENSP00000506993.1:n.*42G>A
ENST00000683797.1:c.103G>A	ENSP00000508179.1:p.Ala35Thr
ENST00000683816.1:c.*377G>A	ENSP00000507834.1:n.*377G>A
ENST00000683915.1:c.9G>A
ENST00000683924.1:c.242G>A	ENSP00000507963.1:p.Cys81Tyr
ENST00000684134.1:n.5414G>A
ENST00000684191.1:c.67+3890G>A	ENSP00000508185.1:n.67+3890G>A
ENST00000684393.1:c.*759G>A	ENSP00000507136.1:n.*759G>A
ENST00000684457.1:c.9G>A
ENST00000684501.1:c.387G>A	ENSP00000507589.1:p.Val129=
ENST00000356940.11:c.454G>A MANE Select	ENSP00000349415.7:p.Ala152Thr
ENST00000356940.10:c.454G>A	ENSP00000349415.6:p.Ala152Thr
ENST00000375802.7:c.319G>A	ENSP00000364960.3:p.Ala107Thr
ENST00000423465.1:c.791G>A
ENST00000465772.5:n.380G>A
ENST00000535776.5:c.262G>A	ENSP00000439321.1:p.Ala88Thr
ENST00000611151.4:c.382G>A	ENSP00000483927.1:p.Ala128Thr
ENST00000621805.4:c.541G>A	ENSP00000478479.1:p.Ala181Thr
NM_001256410.1:c.541G>A	NP_001243339.1:p.Ala181Thr
NM_001256411.1:c.387G>A	NP_001243340.1:p.Val129=
NM_001256412.1:c.262G>A	NP_001243341.1:p.Ala88Thr
NM_001256415.1:c.382G>A	NP_001243344.1:p.Ala128Thr
NM_021252.4:c.454G>A	NP_067075.1:p.Ala152Thr
NR_046172.1:n.588G>A
NM_001256410.2:c.541G>A	NP_001243339.1:p.Ala181Thr
NM_001256411.2:c.387G>A	NP_001243340.1:p.Val129=
NM_001256412.2:c.262G>A	NP_001243341.1:p.Ala88Thr
NM_001256415.2:c.382G>A	NP_001243344.1:p.Ala128Thr
NM_021252.5:c.454G>A MANE Select	NP_067075.1:p.Ala152Thr
NR_046172.2:n.458G>A