Canonical Allele Identifier: CA204497043

Gene: RAB18

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.27526967C>G , CM000672.2:g.27526967C>G	GRCh38
NC_000010.10:g.27815896C>G , CM000672.1:g.27815896C>G	GRCh37
NC_000010.9:g.27855902C>G	NCBI36
NG_032035.1:g.27794C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_021252.5:c.186+78C>G MANE Select	NP_067075.1:n.186+78C>G
ENST00000356940.11:c.186+78C>G MANE Select	ENSP00000349415.7:n.186+78C>G
NM_001256410.1:c.186+78C>G	NP_001243339.1:n.186+78C>G
NM_001256410.2:c.186+78C>G	NP_001243339.1:n.186+78C>G
NM_001256411.1:c.186+78C>G	NP_001243340.1:n.186+78C>G
NM_001256411.2:c.186+78C>G	NP_001243340.1:n.186+78C>G
NM_001256412.1:c.186+78C>G	NP_001243341.1:n.186+78C>G
NM_001256412.2:c.186+78C>G	NP_001243341.1:n.186+78C>G
NM_001256415.1:c.115-5540C>G	NP_001243344.1:n.115-5540C>G
NM_001256415.2:c.115-5540C>G	NP_001243344.1:n.115-5540C>G
NM_021252.4:c.186+78C>G	NP_067075.1:n.186+78C>G
NR_046172.1:n.321-5540C>G
NR_046172.2:n.191-5540C>G
ENST00000356940.10:c.186+78C>G	ENSP00000349415.6:n.186+78C>G
ENST00000375802.7:c.125-6768C>G	ENSP00000364960.3:n.125-6768C>G
ENST00000423465.1:c.436+78C>G
ENST00000423465.2:c.-76+78C>G	ENSP00000407872.2:n.-76+78C>G
ENST00000465772.5:n.179+78C>G
ENST00000535776.5:c.186+78C>G	ENSP00000439321.1:n.186+78C>G
ENST00000535776.6:c.186+78C>G	ENSP00000439321.2:n.186+78C>G
ENST00000611151.4:c.115-5540C>G	ENSP00000483927.1:n.115-5540C>G
ENST00000611151.5:c.125-5540C>G	ENSP00000483927.2:n.125-5540C>G
ENST00000621805.4:c.186+78C>G	ENSP00000478479.1:n.186+78C>G
ENST00000621805.5:c.186+78C>G	ENSP00000478479.1:n.186+78C>G
ENST00000682082.1:c.186+78C>G	ENSP00000507542.1:n.186+78C>G
ENST00000682138.1:n.182C>G
ENST00000682173.1:c.57-6961C>G
ENST00000682181.1:c.*491+78C>G	ENSP00000507392.1:n.*491+78C>G
ENST00000682389.1:c.186+78C>G	ENSP00000507154.1:n.186+78C>G
ENST00000682518.1:n.201-6768C>G
ENST00000682668.1:c.539+78C>G
ENST00000682852.1:c.125-4562C>G	ENSP00000508341.1:n.125-4562C>G
ENST00000682963.1:c.-92-6768C>G	ENSP00000507532.1:n.-92-6768C>G
ENST00000683042.1:n.270+78C>G
ENST00000683088.1:n.302-6768C>G
ENST00000683419.1:c.125-5540C>G	ENSP00000508094.1:n.125-5540C>G
ENST00000683538.1:c.539+78C>G
ENST00000683574.1:n.302-5540C>G
ENST00000683755.1:c.186+78C>G	ENSP00000506993.1:n.186+78C>G
ENST00000683797.1:c.-166+78C>G	ENSP00000508179.1:n.-166+78C>G
ENST00000683816.1:c.*302-6961C>G	ENSP00000507834.1:n.*302-6961C>G
ENST00000683866.1:c.62+78C>G
ENST00000684393.1:c.*491+78C>G	ENSP00000507136.1:n.*491+78C>G
ENST00000684501.1:c.186+78C>G	ENSP00000507589.1:n.186+78C>G