Canonical Allele Identifier: CA204482166
Community Standard Title: NM_021252.5(RAB18):c.69-124G>C
Gene: RAB18 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.27509751G>C , CM000672.2:g.27509751G>C GRCh38
NC_000010.10:g.27798680G>C , CM000672.1:g.27798680G>C GRCh37
NC_000010.9:g.27838686G>C NCBI36
NG_032035.1:g.10578G>C

Transcript Alleles

HGVS Amino-acid Change
NM_021252.5:c.69-124G>C MANE Select NP_067075.1:n.69-124G>C
ENST00000356940.11:c.69-124G>C MANE Select ENSP00000349415.7:n.69-124G>C
NM_001256410.1:c.69-124G>C NP_001243339.1:n.69-124G>C
NM_001256410.2:c.69-124G>C NP_001243339.1:n.69-124G>C
NM_001256411.1:c.69-124G>C NP_001243340.1:n.69-124G>C
NM_001256411.2:c.69-124G>C NP_001243340.1:n.69-124G>C
NM_001256412.1:c.69-124G>C NP_001243341.1:n.69-124G>C
NM_001256412.2:c.69-124G>C NP_001243341.1:n.69-124G>C
NM_001256415.1:c.69-124G>C NP_001243344.1:n.69-124G>C
NM_001256415.2:c.69-124G>C NP_001243344.1:n.69-124G>C
NM_021252.4:c.69-124G>C NP_067075.1:n.69-124G>C
NR_046172.1:n.265-124G>C
NR_046172.2:n.135-124G>C
ENST00000356940.10:c.69-124G>C ENSP00000349415.6:n.69-124G>C
ENST00000375802.7:c.69-124G>C ENSP00000364960.3:n.69-124G>C
ENST00000423465.1:c.319-124G>C
ENST00000423465.2:c.-193-124G>C ENSP00000407872.2:n.-193-124G>C
ENST00000465772.5:n.62-124G>C
ENST00000484281.1:n.45-124G>C
ENST00000484281.2:n.166-124G>C
ENST00000490236.2:n.115-124G>C
ENST00000535776.5:c.69-124G>C ENSP00000439321.1:n.69-124G>C
ENST00000535776.6:c.69-124G>C ENSP00000439321.2:n.69-124G>C
ENST00000611151.4:c.69-124G>C ENSP00000483927.1:n.69-124G>C
ENST00000611151.5:c.69-124G>C ENSP00000483927.2:n.69-124G>C
ENST00000621805.4:c.69-124G>C ENSP00000478479.1:n.69-124G>C
ENST00000621805.5:c.69-124G>C ENSP00000478479.1:n.69-124G>C
ENST00000682082.1:c.69-124G>C ENSP00000507542.1:n.69-124G>C
ENST00000682181.1:c.69-124G>C ENSP00000507392.1:n.69-124G>C
ENST00000682368.1:n.134+5314G>C
ENST00000682389.1:c.69-124G>C ENSP00000507154.1:n.69-124G>C
ENST00000682518.1:n.145-124G>C
ENST00000682668.1:c.56-124G>C
ENST00000682852.1:c.69-124G>C ENSP00000508341.1:n.69-124G>C
ENST00000682963.1:c.-93+5314G>C ENSP00000507532.1:n.-93+5314G>C
ENST00000683042.1:n.153-124G>C
ENST00000683419.1:c.69-124G>C ENSP00000508094.1:n.69-124G>C
ENST00000683538.1:c.56-124G>C
ENST00000683610.1:n.107-124G>C
ENST00000683755.1:c.69-124G>C ENSP00000506993.1:n.69-124G>C
ENST00000683797.1:c.-283-124G>C ENSP00000508179.1:n.-283-124G>C
ENST00000683816.1:c.69-124G>C ENSP00000507834.1:n.69-124G>C
ENST00000684393.1:c.69-124G>C ENSP00000507136.1:n.69-124G>C
ENST00000684501.1:c.69-124G>C ENSP00000507589.1:n.69-124G>C
ENST00000684744.1:n.267-124G>C