Canonical Allele Identifier: CA8572366

Gene: RAB5C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42130484C>T , CM000679.2:g.42130484C>T	GRCh38
NC_000017.10:g.40282502C>T , CM000679.1:g.40282502C>T	GRCh37
NC_000017.9:g.37536028C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000346213.9:c.19G>A MANE Select	ENSP00000345689.5:p.Ala7Thr
ENST00000346213.8:c.19G>A	ENSP00000345689.4:p.Ala7Thr
ENST00000393860.7:c.19G>A	ENSP00000377440.3:p.Ala7Thr
ENST00000546881.1:n.211G>A
ENST00000547517.5:c.118G>A	ENSP00000447053.1:p.Ala40Thr
ENST00000550013.1:n.232G>A
ENST00000550406.1:c.19G>A	ENSP00000448314.1:p.Ala7Thr
ENST00000550504.5:c.19G>A	ENSP00000449777.1:p.Ala7Thr
ENST00000552162.5:c.19G>A	ENSP00000449612.1:p.Ala7Thr
ENST00000592248.5:c.19G>A	ENSP00000468275.1:p.Ala7Thr
ENST00000592574.1:c.19G>A	ENSP00000468367.1:p.Ala7Thr
NM_001252039.1:c.118G>A	NP_001238968.1:p.Ala40Thr
NM_004583.3:c.19G>A	NP_004574.2:p.Ala7Thr
NM_201434.2:c.19G>A	NP_958842.1:p.Ala7Thr
XM_011525090.1:c.19G>A	XP_011523392.1:p.Ala7Thr
XM_011525091.1:c.19G>A	XP_011523393.1:p.Ala7Thr
NM_001252039.2:c.118G>A	NP_001238968.1:p.Ala40Thr
NM_004583.4:c.19G>A MANE Select	NP_004574.2:p.Ala7Thr
NM_201434.3:c.19G>A	NP_958842.1:p.Ala7Thr