Canonical Allele Identifier: CA2600889

Gene: RAB7A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128813390G>A , CM000665.2:g.128813390G>A	GRCh38
NC_000003.11:g.128532233G>A , CM000665.1:g.128532233G>A	GRCh37
NC_000003.10:g.130014923G>A	NCBI36
NG_008070.1:g.92255G>A , LRG_266:g.92255G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_004637.6:c.592G>A MANE Select	NP_004628.4:p.Ala198Thr
ENST00000265062.8:c.592G>A MANE Select	ENSP00000265062.3:p.Ala198Thr
NM_004637.5:c.592G>A , LRG_266t1:c.592G>A	NP_004628.4:p.Ala198Thr
ENST00000265062.7:c.592G>A	ENSP00000265062.3:p.Ala198Thr
ENST00000482525.5:c.451G>A	ENSP00000417668.1:p.Ala151Thr
ENST00000483906.5:c.373G>A	ENSP00000417155.1:p.Ala125Thr
ENST00000485280.1:c.244G>A	ENSP00000418283.1:p.Ala82Thr
ENST00000490093.6:c.*134G>A	ENSP00000418955.2:n.*134G>A
ENST00000493186.5:c.265G>A	ENSP00000417189.1:p.Ala89Thr
ENST00000493186.6:c.265G>A	ENSP00000417189.1:p.Ala89Thr
ENST00000674589.1:c.592G>A	ENSP00000502088.1:p.Ala198Thr
ENST00000674593.1:n.590G>A
ENST00000674748.1:c.520G>A	ENSP00000502224.1:p.Ala174Thr
ENST00000675342.1:c.592G>A	ENSP00000502486.1:p.Ala198Thr
ENST00000675497.1:c.592G>A	ENSP00000502000.1:p.Ala198Thr
ENST00000675712.1:n.1776G>A
ENST00000675864.1:c.528+5719G>A	ENSP00000502566.1:n.528+5719G>A
ENST00000676147.1:c.672G>A
ENST00000676214.1:c.592G>A	ENSP00000501618.1:p.Ala198Thr
ENST00000676425.1:c.*68G>A	ENSP00000502084.1:n.*68G>A
XM_024453745.1:c.592G>A	XP_024309513.1:p.Ala198Thr
XR_002959582.1:n.1776G>A
XR_002959583.1:n.1704G>A