Canonical Allele Identifier: CA219662
Gene: RAB7A HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 7346
dbSNP Id: rs121909079

User contributed link-outs

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
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:p.=
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