Canonical Allele Identifier: CA5452471

Gene: RAB18

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27538470G>A , CM000672.2:g.27538470G>A	GRCh38
NC_000010.10:g.27827399G>A , CM000672.1:g.27827399G>A	GRCh37
NC_000010.9:g.27867405G>A	NCBI36
NG_032035.1:g.39297G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_021252.5:c.*419G>A MANE Select	NP_067075.1:n.*419G>A
ENST00000356940.11:c.*419G>A MANE Select	ENSP00000349415.7:n.*419G>A
NM_001256410.1:c.*419G>A	NP_001243339.1:n.*419G>A
NM_001256410.2:c.*419G>A	NP_001243339.1:n.*419G>A
NM_001256411.1:c.*379G>A	NP_001243340.1:n.*379G>A
NM_001256411.2:c.*379G>A	NP_001243340.1:n.*379G>A
NM_001256412.1:c.*419G>A	NP_001243341.1:n.*419G>A
NM_001256412.2:c.*419G>A	NP_001243341.1:n.*419G>A
NM_001256415.1:c.*419G>A	NP_001243344.1:n.*419G>A
NM_001256415.2:c.*419G>A	NP_001243344.1:n.*419G>A
NM_021252.4:c.*419G>A	NP_067075.1:n.*419G>A
NR_046172.1:n.1174G>A
NR_046172.2:n.1044G>A
ENST00000356940.10:c.*419G>A	ENSP00000349415.6:n.*419G>A
ENST00000465772.5:n.966G>A
ENST00000535776.5:c.*419G>A	ENSP00000439321.1:n.*419G>A
ENST00000535776.6:c.*573G>A	ENSP00000439321.2:n.*573G>A
ENST00000611151.4:c.*419G>A	ENSP00000483927.1:n.*419G>A
ENST00000611151.5:c.*828G>A	ENSP00000483927.2:n.*828G>A
ENST00000621805.4:c.1127G>A	ENSP00000478479.1:n.1127G>A
ENST00000621805.5:c.*419G>A	ENSP00000478479.1:n.*419G>A
ENST00000682082.1:c.*171+248G>A	ENSP00000507542.1:n.*171+248G>A
ENST00000682173.1:c.718G>A
ENST00000682181.1:c.*1345G>A	ENSP00000507392.1:n.*1345G>A
ENST00000682347.1:c.68-4283G>A	ENSP00000508355.1:n.68-4283G>A
ENST00000682389.1:c.*419G>A	ENSP00000507154.1:n.*419G>A
ENST00000682518.1:n.1055G>A
ENST00000682668.1:c.1393G>A
ENST00000682777.1:n.2207G>A
ENST00000682852.1:c.*885G>A	ENSP00000508341.1:n.*885G>A
ENST00000682963.1:c.*419G>A	ENSP00000507532.1:n.*419G>A
ENST00000683030.1:c.150+445G>A
ENST00000683419.1:c.*761G>A	ENSP00000508094.1:n.*761G>A
ENST00000683755.1:c.*628G>A	ENSP00000506993.1:n.*628G>A
ENST00000683816.1:c.*963G>A	ENSP00000507834.1:n.*963G>A
ENST00000683915.1:c.153+442G>A
ENST00000683924.1:c.828G>A	ENSP00000507963.1:n.828G>A
ENST00000684134.1:n.6000G>A
ENST00000684191.1:c.68-3532G>A	ENSP00000508185.1:n.68-3532G>A
ENST00000684393.1:c.*1345G>A	ENSP00000507136.1:n.*1345G>A
ENST00000684457.1:c.150+445G>A