Canonical Allele Identifier: CA399558481

Gene: RAB5C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42128365T>G , CM000679.2:g.42128365T>G	GRCh38
NC_000017.10:g.40280383T>G , CM000679.1:g.40280383T>G	GRCh37
NC_000017.9:g.37533909T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_004583.4:c.337A>C MANE Select	NP_004574.2:p.Lys113Gln
ENST00000346213.9:c.337A>C MANE Select	ENSP00000345689.5:p.Lys113Gln
NM_001252039.1:c.436A>C	NP_001238968.1:p.Lys146Gln
NM_001252039.2:c.436A>C	NP_001238968.1:p.Lys146Gln
NM_004583.3:c.337A>C	NP_004574.2:p.Lys113Gln
NM_201434.2:c.337A>C	NP_958842.1:p.Lys113Gln
NM_201434.3:c.337A>C	NP_958842.1:p.Lys113Gln
ENST00000346213.8:c.337A>C	ENSP00000345689.4:p.Lys113Gln
ENST00000393860.7:c.337A>C	ENSP00000377440.3:p.Lys113Gln
ENST00000547517.5:c.436A>C	ENSP00000447053.1:p.Lys146Gln
ENST00000551338.1:c.130A>C	ENSP00000467144.1:p.Lys44Gln
ENST00000552162.5:c.337A>C	ENSP00000449612.1:p.Lys113Gln
ENST00000592248.5:c.337A>C	ENSP00000468275.1:p.Lys113Gln
ENST00000592574.1:c.337A>C	ENSP00000468367.1:p.Lys113Gln
XM_011525090.1:c.337A>C	XP_011523392.1:p.Lys113Gln
XM_011525091.1:c.337A>C	XP_011523393.1:p.Lys113Gln