Canonical Allele Identifier: CA7621632
Community Standard Title: NM_004663.5(RAB11A):c.521G>A (p.Arg174His)
Gene: RAB11A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65887710G>A , CM000677.2:g.65887710G>A GRCh38
NC_000015.9:g.66180048G>A , CM000677.1:g.66180048G>A GRCh37
NC_000015.8:g.63967102G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_004663.5:c.521G>A MANE Select NP_004654.1:p.Arg174His
ENST00000261890.7:c.521G>A MANE Select ENSP00000261890.2:p.Arg174His
NM_001206836.1:c.440-14G>A NP_001193765.1:n.440-14G>A
NM_001206836.2:c.440-14G>A NP_001193765.1:n.440-14G>A
NM_004663.4:c.521G>A NP_004654.1:p.Arg174His
ENST00000261890.6:c.521G>A ENSP00000261890.2:p.Arg174His
ENST00000564910.5:c.311G>A ENSP00000455567.1:p.Arg104His
ENST00000565075.5:c.467G>A ENSP00000456638.1:p.Arg156His
ENST00000566233.5:c.440G>A ENSP00000454381.1:p.Arg147His
ENST00000567671.1:c.164G>A ENSP00000454673.1:p.Arg55His
ENST00000569304.1:n.134G>A
ENST00000569896.1:c.440-14G>A ENSP00000456420.1:n.440-14G>A