Canonical Allele Identifier: CA399557321

Gene: RAB5C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42125877T>A , CM000679.2:g.42125877T>A	GRCh38
NC_000017.10:g.40277895T>A , CM000679.1:g.40277895T>A	GRCh37
NC_000017.9:g.37531421T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346213.9:c.557A>T MANE Select	ENSP00000345689.5:p.Glu186Val
ENST00000346213.8:c.557A>T	ENSP00000345689.4:p.Glu186Val
ENST00000393860.7:c.557A>T	ENSP00000377440.3:p.Glu186Val
ENST00000547517.5:c.656A>T	ENSP00000447053.1:p.Glu219Val
ENST00000592248.5:c.441+2384A>T	ENSP00000468275.1:n.441+2384A>T
ENST00000592574.1:c.441+2384A>T	ENSP00000468367.1:n.441+2384A>T
NM_001252039.1:c.656A>T	NP_001238968.1:p.Glu219Val
NM_004583.3:c.557A>T	NP_004574.2:p.Glu186Val
NM_201434.2:c.557A>T	NP_958842.1:p.Glu186Val
XM_011525090.1:c.557A>T	XP_011523392.1:p.Glu186Val
XM_011525091.1:c.557A>T	XP_011523393.1:p.Glu186Val
NM_001252039.2:c.656A>T	NP_001238968.1:p.Glu219Val
NM_004583.4:c.557A>T MANE Select	NP_004574.2:p.Glu186Val
NM_201434.3:c.557A>T	NP_958842.1:p.Glu186Val