Canonical Allele Identifier: CA2600883

Gene: RAB7A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128813366A>G , CM000665.2:g.128813366A>G	GRCh38
NC_000003.11:g.128532209A>G , CM000665.1:g.128532209A>G	GRCh37
NC_000003.10:g.130014899A>G	NCBI36
NG_008070.1:g.92231A>G , LRG_266:g.92231A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004637.6:c.568A>G MANE Select	NP_004628.4:p.Ile190Val
ENST00000265062.8:c.568A>G MANE Select	ENSP00000265062.3:p.Ile190Val
NM_004637.5:c.568A>G , LRG_266t1:c.568A>G	NP_004628.4:p.Ile190Val
ENST00000265062.7:c.568A>G	ENSP00000265062.3:p.Ile190Val
ENST00000482525.5:c.427A>G	ENSP00000417668.1:p.Ile143Val
ENST00000483906.5:c.349A>G	ENSP00000417155.1:p.Ile117Val
ENST00000485280.1:c.220A>G	ENSP00000418283.1:p.Ile74Val
ENST00000490093.6:c.*110A>G	ENSP00000418955.2:n.*110A>G
ENST00000493186.5:c.241A>G	ENSP00000417189.1:p.Ile81Val
ENST00000493186.6:c.241A>G	ENSP00000417189.1:p.Ile81Val
ENST00000674589.1:c.568A>G	ENSP00000502088.1:p.Ile190Val
ENST00000674593.1:n.566A>G
ENST00000674748.1:c.496A>G	ENSP00000502224.1:p.Ile166Val
ENST00000675342.1:c.568A>G	ENSP00000502486.1:p.Ile190Val
ENST00000675497.1:c.568A>G	ENSP00000502000.1:p.Ile190Val
ENST00000675712.1:n.1752A>G
ENST00000675864.1:c.528+5695A>G	ENSP00000502566.1:n.528+5695A>G
ENST00000676147.1:c.648A>G
ENST00000676214.1:c.568A>G	ENSP00000501618.1:p.Ile190Val
ENST00000676425.1:c.*44A>G	ENSP00000502084.1:n.*44A>G
XM_024453745.1:c.568A>G	XP_024309513.1:p.Ile190Val
XR_002959582.1:n.1752A>G
XR_002959583.1:n.1680A>G