Canonical Allele Identifier: CA219662

Gene: RAB7A

Linked Data

• ClinVar Variation Id: 7346
• ClinVar RCV Id: RCV000007771 ; RCV000059224 ; RCV000789554
• dbSNP Id: rs121909079
• MyVariant Identifiers: chr3:g.128526470G>A (hg19) ; chr3:g.128807627G>A (hg38)
• PubMed: PMID:12545426

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.128807627G>A , CM000665.2:g.128807627G>A	GRCh38
NC_000003.11:g.128526470G>A , CM000665.1:g.128526470G>A	GRCh37
NC_000003.10:g.130009160G>A	NCBI36
NG_008070.1:g.86492G>A , LRG_266:g.86492G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265062.8:c.484G>A MANE Select	ENSP00000265062.3:p.Val162Met
ENST00000490093.6:c.*26G>A	ENSP00000418955.2:n.*26G>A
ENST00000493186.6:c.157G>A	ENSP00000417189.1:p.Val53Met
ENST00000674589.1:c.484G>A	ENSP00000502088.1:p.Val162Met
ENST00000674593.1:n.482G>A
ENST00000674748.1:c.412G>A	ENSP00000502224.1:p.Val138Met
ENST00000675342.1:c.484G>A	ENSP00000502486.1:p.Val162Met
ENST00000675497.1:c.484G>A	ENSP00000502000.1:p.Val162Met
ENST00000675712.1:n.1668G>A
ENST00000675864.1:c.484G>A	ENSP00000502566.1:p.Val162Met
ENST00000676147.1:c.564G>A
ENST00000676214.1:c.484G>A	ENSP00000501618.1:p.Val162Met
ENST00000676425.1:c.484G>A	ENSP00000502084.1:p.Val162Met
ENST00000265062.7:c.484G>A	ENSP00000265062.3:p.Val162Met
ENST00000482525.5:c.343G>A	ENSP00000417668.1:p.Val115Met
ENST00000483906.5:c.265G>A	ENSP00000417155.1:p.Val89Met
ENST00000485280.1:c.181-5700G>A	ENSP00000418283.1:n.181-5700G>A
ENST00000493186.5:c.157G>A	ENSP00000417189.1:p.Val53Met
NM_004637.5:c.484G>A , LRG_266t1:c.484G>A	NP_004628.4:p.Val162Met
XM_024453745.1:c.484G>A	XP_024309513.1:p.Val162Met
XR_002959582.1:n.1668G>A
XR_002959583.1:n.1596G>A
NM_004637.6:c.484G>A MANE Select	NP_004628.4:p.Val162Met